Variant report

Variant	rs201998040
Chromosome Location	chr7:6542709-6542710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6530503..6532685-chr7:6541822..6544289,2	MCF-7	breast:
2	chr7:6515446..6517619-chr7:6541586..6543669,2	MCF-7	breast:
3	chr7:6414882..6417650-chr7:6542443..6546000,3	MCF-7	breast:
4	chr7:6485603..6488536-chr7:6541994..6543811,2	K562	blood:
5	chr7:6541570..6543326-chr7:6585489..6588258,2	MCF-7	breast:
6	chr2:215055714..215057340-chr7:6541480..6542991,2	MCF-7	breast:
7	chr7:6521451..6526537-chr7:6541616..6547791,14	MCF-7	breast:
8	chr7:6527568..6529479-chr7:6542425..6544621,2	MCF-7	breast:
9	chr7:6523517..6526434-chr7:6541956..6543782,3	K562	blood:
10	chr7:6542151..6545329-chr7:6615241..6617265,3	K562	blood:
11	chr7:6530076..6532868-chr7:6542072..6546078,3	K562	blood:
12	chr7:6501893..6503760-chr7:6541357..6543829,2	MCF-7	breast:
13	chr7:6519406..6527633-chr7:6541095..6545327,10	MCF-7	breast:
14	chr7:6541800..6543644-chr7:6564855..6567732,2	K562	blood:
15	chr7:6541964..6545996-chr7:6546800..6549452,3	K562	blood:
16	chr7:6541950..6543739-chr7:6677071..6679453,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269781	Chromatin interaction
ENSG00000231359	Chromatin interaction
ENSG00000136247	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000164535	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
16	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
17	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
18	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
19	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
20	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
21	esv3424341	chr7:6541877-6545575	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6533200-6543000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:6540400-6545400	Weak transcription	Fetal Heart	heart
3	chr7:6541400-6543000	Enhancers	Spleen	Spleen
4	chr7:6542000-6543000	Enhancers	Gastric	stomach
5	chr7:6542400-6542800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
6	chr7:6542400-6542800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
7	chr7:6542400-6542800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
8	chr7:6542400-6542800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:6542400-6542800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:6542400-6542800	Active TSS	Colonic Mucosa	Colon
11	chr7:6542400-6542800	Flanking Active TSS	Esophagus	oesophagus
12	chr7:6542400-6542800	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr7:6542400-6542800	Enhancers	Small Intestine	intestine
14	chr7:6542400-6543000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:6542400-6543000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:6542400-6543000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr7:6542400-6543000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:6542400-6543000	Enhancers	Brain Cingulate Gyrus	brain
19	chr7:6542400-6543000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:6542400-6543000	Enhancers	Right Ventricle	heart
21	chr7:6542400-6543000	Enhancers	Stomach Mucosa	stomach
22	chr7:6542400-6543200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr7:6542400-6543200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:6542400-6543600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr7:6542400-6544400	Active TSS	Fetal Intestine Large	intestine
26	chr7:6542400-6544400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr7:6542400-6544600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr7:6542400-6544600	Active TSS	Lung	lung
29	chr7:6542600-6542800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr7:6542600-6542800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr7:6542600-6542800	Enhancers	Primary B cells from cord blood	blood
32	chr7:6542600-6542800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:6542600-6542800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:6542600-6542800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:6542600-6542800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr7:6542600-6542800	Flanking Active TSS	Fetal Brain Male	brain
37	chr7:6542600-6542800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
38	chr7:6542600-6542800	Flanking Active TSS	Pancreas	Pancrea
39	chr7:6542600-6542800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr7:6542600-6542800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr7:6542600-6542800	Enhancers	K562	blood
42	chr7:6542600-6543000	Enhancers	Primary B cells from peripheral blood	blood
43	chr7:6542600-6543000	Enhancers	Aorta	Aorta
44	chr7:6542600-6543000	Enhancers	Brain Hippocampus Middle	brain
45	chr7:6542600-6543000	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr7:6542600-6543000	Bivalent Enhancer	Placenta	Placenta
47	chr7:6542600-6543000	Enhancers	Right Atrium	heart
48	chr7:6542600-6543000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr7:6542600-6543000	Bivalent/Poised TSS	Thymus	Thymus
50	chr7:6542600-6543200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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