Variant report

Variant	rs368349971
Chromosome Location	chr7:6522463-6522464
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:6522353-6524115	K562	blood:	n/a	chr7:6523556-6523565
2	GATA3	chr7:6522463-6523034	MCF-7	breast:	n/a	n/a
3	MTA3	chr7:6522448-6523381	GM12878	blood:	n/a	n/a
4	CTCF	chr7:6522460-6522610	SK-N-SH_RA	brain:	n/a	n/a
5	GATA3	chr7:6522416-6523034	T-47D	breast:	n/a	n/a
6	TEAD4	chr7:6521870-6522714	HepG2	liver:	n/a	n/a
7	MXI1	chr7:6521933-6524680	SK-N-SH	brain:	n/a	n/a
8	CHD1	chr7:6522373-6524009	GM12878	blood:	n/a	chr7:6523177-6523187
9	GATA1	chr7:6522405-6523052	PBDE	blood:	n/a	n/a
10	MYBL2	chr7:6521887-6522494	HepG2	liver:	n/a	n/a
11	TEAD4	chr7:6522365-6522958	K562	blood:	n/a	n/a
12	MXI1	chr7:6521875-6524294	IMR90	lung:	n/a	n/a
13	POLR2A	chr7:6522370-6524106	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:6521038-6524115	HepG2	liver:	n/a	n/a
15	CHD1	chr7:6522457-6524240	IMR90	lung:	n/a	chr7:6523177-6523187
16	YY1	chr7:6522447-6522604	K562	blood:	n/a	n/a
17	CTCF	chr7:6522460-6522610	NHEK	skin:	n/a	n/a
18	HEY1	chr7:6522416-6523320	HepG2	liver:	n/a	n/a
19	CBX3	chr7:6522425-6523098	K562	blood:	n/a	n/a
20	POLR2A	chr7:6521823-6524383	HepG2	liver:	n/a	n/a
21	POLR2A	chr7:6521902-6524052	IMR90	lung:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:107863835..107864489-chr7:6521954..6522744,2	MCF-7	breast:
2	chr7:6522385..6525546-chr7:6675389..6679461,5	MCF-7	breast:
3	chr7:6485398..6489202-chr7:6520855..6525273,5	MCF-7	breast:
4	chr7:6521681..6526038-chr7:6526623..6531331,7	K562	blood:
5	chr7:6509730..6517655-chr7:6520090..6524473,18	K562	blood:
6	chr6:27857335..27860257-chr7:6521676..6523586,2	MCF-7	breast:
7	chr7:6486201..6489628-chr7:6522463..6525039,4	MCF-7	breast:
8	chr7:6521171..6524635-chr7:6615181..6617344,3	K562	blood:
9	chr7:6142905..6144683-chr7:6522279..6524664,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269781	TF binding region
ENSG00000205903	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000136247	Chromatin interaction
ENSG00000106346	Chromatin interaction
ENSG00000164535	Chromatin interaction
ENSG00000231359	Chromatin interaction
ENSG00000197153	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv1026878	chr7:6490387-6592374	Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
12	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
13	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	esv3420137	chr7:6522252-6524800	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
16	nsv366533	chr7:6522464-6522475	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6503600-6522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6507800-6522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:6510200-6522600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:6517000-6522600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:6519400-6522600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:6520400-6522600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:6520800-6524600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:6521200-6522600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr7:6521200-6522800	Flanking Active TSS	Liver	Liver
10	chr7:6521400-6522600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr7:6521400-6522800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:6521400-6524000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr7:6521400-6524200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:6521400-6524200	Active TSS	Pancreas	Pancrea
15	chr7:6521600-6524600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:6521800-6522600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:6521800-6522600	Enhancers	Brain Cingulate Gyrus	brain
18	chr7:6521800-6522600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr7:6521800-6524400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:6522000-6522600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:6522000-6522600	Enhancers	Primary B cells from peripheral blood	blood
22	chr7:6522000-6522600	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr7:6522000-6522600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr7:6522000-6522600	Flanking Active TSS	Fetal Stomach	stomach
25	chr7:6522000-6522600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:6522000-6522600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr7:6522000-6522600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr7:6522000-6522600	Flanking Active TSS	Hela-S3	cervix
29	chr7:6522000-6522800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr7:6522000-6522800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:6522000-6522800	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr7:6522000-6522800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr7:6522000-6522800	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr7:6522000-6523000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr7:6522000-6523200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr7:6522000-6523200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:6522000-6523800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:6522000-6524000	Active TSS	Fetal Intestine Large	intestine
39	chr7:6522000-6524200	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr7:6522000-6524400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:6522000-6524400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:6522000-6524400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:6522000-6524400	Active TSS	Right Atrium	heart
44	chr7:6522200-6522600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:6522200-6522600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr7:6522200-6522600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:6522200-6522600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:6522200-6522600	Enhancers	Brain Hippocampus Middle	brain
49	chr7:6522200-6522600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr7:6522200-6522600	Enhancers	Fetal Heart	heart

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