Variant report

Variant	rs2254503
Chromosome Location	chr7:6678603-6678604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:6674902-6678650	K562	blood:	n/a	n/a
2	POLR2A	chr7:6678280-6678755	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6676193..6679067-chr7:6744810..6746794,4	K562	blood:
2	chr7:6615800..6617832-chr7:6677563..6680150,2	MCF-7	breast:
3	chr7:6522385..6525546-chr7:6675389..6679461,5	MCF-7	breast:
4	chr12:56510812..56512603-chr7:6677169..6678802,2	MCF-7	breast:
5	chr7:6627001..6634994-chr7:6673643..6681623,15	MCF-7	breast:
6	chr7:6541950..6543739-chr7:6677071..6679453,2	K562	blood:
7	chr7:6677446..6679002-chr7:6745294..6747715,2	K562	blood:
8	chr7:6628215..6631115-chr7:6675239..6679126,9	MCF-7	breast:
9	chr7:6675962..6678642-chr7:6744432..6748032,4	MCF-7	breast:
10	chr7:6626891..6631454-chr7:6676260..6679154,6	K562	blood:
11	chr7:6654514..6658630-chr7:6675114..6678876,5	MCF-7	breast:
12	chr7:6674043..6676883-chr7:6677067..6680291,5	K562	blood:
13	chr7:6626891..6631453-chr7:6677284..6679167,4	K562	blood:
14	chr7:6615703..6619364-chr7:6676501..6679314,4	K562	blood:

No data

Variant related genes	Relation type
ZNF316	TF binding region
ENSG00000232581	Chromatin interaction
ENSG00000164631	Chromatin interaction
ENSG00000269781	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000146576	Chromatin interaction
ENSG00000236609	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000136247	Chromatin interaction
ENSG00000135482	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2253738	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2253770	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2254381	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs940870	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
4	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv508444	chr7:6534110-6700527	Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv887431	chr7:6535517-6690240	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv515978	chr7:6535517-6698905	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv887434	chr7:6557135-6713985	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	nsv606001	chr7:6563109-6683454	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
14	nsv606002	chr7:6567114-6713985	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
15	nsv887435	chr7:6613604-6713985	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv824002	chr7:6618087-6716961	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv824003	chr7:6620920-6721409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv887436	chr7:6626922-6721661	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	esv1797143	chr7:6628177-6705439	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
20	nsv606003	chr7:6628242-6713985	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv606004	chr7:6643664-6692573	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv887437	chr7:6645281-6704332	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv887438	chr7:6652740-6709600	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	esv1820840	chr7:6656753-6698297	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	esv1821128	chr7:6656753-6698297	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	esv1824232	chr7:6656753-6706631	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
27	esv1841674	chr7:6656753-6706631	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
28	nsv464297	chr7:6656897-6698905	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
29	nsv606005	chr7:6656897-6698905	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
30	nsv606006	chr7:6659509-6721661	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
31	nsv606007	chr7:6666501-6692407	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
32	esv1803673	chr7:6671496-6721661	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
33	esv1834684	chr7:6671496-6721661	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
34	esv1800946	chr7:6673956-6706631	Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
35	esv1813782	chr7:6673956-6706631	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
36	esv1818550	chr7:6673956-6706631	Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
37	esv1826832	chr7:6673956-6706631	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
38	esv1839832	chr7:6673956-6706631	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
39	esv1851662	chr7:6673956-6706631	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6677600-6678800	Flanking Active TSS	Fetal Brain Female	brain
2	chr7:6677600-6678800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr7:6677600-6679000	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr7:6677800-6679200	Enhancers	Spleen	Spleen
5	chr7:6677800-6679400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:6677800-6679400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:6678000-6678800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:6678000-6678800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:6678000-6678800	Enhancers	Lung	lung
10	chr7:6678000-6678800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr7:6678000-6679000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:6678000-6679000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:6678000-6679200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:6678000-6679400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:6678000-6679400	Enhancers	Left Ventricle	heart
16	chr7:6678000-6680600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:6678000-6691600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:6678200-6678800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:6678200-6678800	Enhancers	Primary T cells from cord blood	blood
20	chr7:6678200-6678800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:6678200-6678800	Enhancers	Liver	Liver
22	chr7:6678200-6678800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr7:6678200-6678800	Enhancers	Esophagus	oesophagus
24	chr7:6678200-6678800	Enhancers	Psoas Muscle	Psoas
25	chr7:6678200-6679000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr7:6678200-6679000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr7:6678200-6679000	Enhancers	Primary hematopoietic stem cells	blood
28	chr7:6678200-6679000	Genic enhancers	Fetal Stomach	stomach
29	chr7:6678200-6679200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:6678200-6679200	Enhancers	Fetal Brain Male	brain
31	chr7:6678200-6679400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:6678200-6679400	Enhancers	Pancreas	Pancrea
33	chr7:6678200-6679600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:6678200-6679600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr7:6678200-6679800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:6678200-6679800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:6678200-6679800	Genic enhancers	Fetal Muscle Leg	muscle
38	chr7:6678200-6680000	Enhancers	Fetal Heart	heart
39	chr7:6678200-6680000	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr7:6678200-6680400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:6678200-6680400	Weak transcription	NH-A	brain
42	chr7:6678200-6680600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr7:6678200-6680600	Weak transcription	HSMMtube	muscle
44	chr7:6678200-6681000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:6678200-6681000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:6678200-6681000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr7:6678200-6681200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:6678200-6681600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:6678200-6681600	Weak transcription	Fetal Kidney	kidney
50	chr7:6678200-6682400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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