Variant report

Variant	rs3801284
Chromosome Location	chr7:104862859-104862860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104851794..104856140-chr7:104862639..104865713,4	K562	blood:
2	chr7:104862522..104864551-chr7:104866607..104868300,2	K562	blood:
3	chr7:104858335..104861372-chr7:104862250..104865906,3	MCF-7	breast:
4	chr7:104861681..104863242-chr7:104872431..104874616,2	K562	blood:
5	chr7:104860454..104863206-chr7:104876293..104878733,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1815127	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104842200-104865400	Weak transcription	K562	blood
2	chr7:104843200-104863400	Weak transcription	HepG2	liver
3	chr7:104844000-104863200	Weak transcription	Fetal Intestine Large	intestine
4	chr7:104844200-104869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:104844200-104869000	Weak transcription	Fetal Intestine Small	intestine
6	chr7:104844200-104869000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:104851400-104863400	Weak transcription	Ovary	ovary
8	chr7:104851600-104878600	Weak transcription	Right Ventricle	heart
9	chr7:104851800-104870400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:104852000-104863400	Weak transcription	Left Ventricle	heart
11	chr7:104852000-104863400	Weak transcription	Pancreas	Pancrea
12	chr7:104852200-104863400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:104852200-104863400	Weak transcription	Fetal Thymus	thymus
14	chr7:104853200-104865400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:104853600-104869000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:104854400-104865800	Weak transcription	Fetal Kidney	kidney
17	chr7:104854600-104863400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:104854600-104865400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:104854800-104863400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:104854800-104865200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:104854800-104865600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:104855200-104865800	Weak transcription	Primary T cells from cord blood	blood
23	chr7:104855800-104863600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr7:104856000-104863400	Weak transcription	Small Intestine	intestine
25	chr7:104856800-104865400	Weak transcription	Primary B cells from cord blood	blood
26	chr7:104858000-104865400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:104858600-104865400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:104858800-104863600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:104858800-104865400	Weak transcription	Thymus	Thymus
30	chr7:104859000-104863400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:104859000-104863600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:104859000-104863800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:104859000-104865600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:104859000-104869000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:104859000-104878600	Weak transcription	Gastric	stomach
36	chr7:104859200-104863400	Weak transcription	NHDF-Ad	bronchial
37	chr7:104859600-104866800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:104859800-104863200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:104859800-104863400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:104859800-104863400	Weak transcription	Psoas Muscle	Psoas
41	chr7:104859800-104864000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:104859800-104864800	Weak transcription	Esophagus	oesophagus
43	chr7:104859800-104869000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:104860000-104863400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:104860000-104863600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr7:104860200-104863400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:104860200-104863800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:104860200-104865400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:104860200-104877200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr7:104860400-104863400	Weak transcription	HSMM	muscle

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