Variant report

Variant	rs571225580
Chromosome Location	chr7:104851212-104851213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104842472..104844630-chr7:104851127..104854006,3	K562	blood:
2	chr7:104842758..104847197-chr7:104847496..104851366,4	MCF-7	breast:
3	chr7:104845667..104848207-chr7:104850068..104852125,2	K562	blood:
4	chr7:104851087..104853973-chr7:104856176..104858967,3	K562	blood:
5	chr7:104850289..104852047-chr7:104854189..104856772,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271482	Chromatin interaction
ENSG00000135250	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv967467	chr7:104850694-104859017	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104822000-104858800	Weak transcription	Gastric	stomach
2	chr7:104839400-104858400	Weak transcription	NHLF	lung
3	chr7:104839600-104857200	Weak transcription	A549	lung
4	chr7:104841200-104853400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:104842200-104865400	Weak transcription	K562	blood
6	chr7:104842400-104857200	Weak transcription	HMEC	breast
7	chr7:104843200-104863400	Weak transcription	HepG2	liver
8	chr7:104843800-104859600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:104844000-104863200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:104844200-104869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:104844200-104869000	Weak transcription	Fetal Intestine Small	intestine
12	chr7:104844200-104869000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:104844600-104857800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:104845200-104851800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:104845400-104857000	Weak transcription	NHEK	skin
16	chr7:104845400-104857200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:104845400-104858800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:104845600-104851800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:104846600-104852800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:104847200-104851400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:104847200-104862600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:104848600-104854600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:104848600-104860200	Genic enhancers	Dnd41	blood
24	chr7:104849000-104851600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:104849000-104851600	Enhancers	Thymus	Thymus
26	chr7:104849200-104852200	Enhancers	Fetal Thymus	thymus
27	chr7:104849400-104852000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:104849600-104851600	Enhancers	Primary T cells from cord blood	blood
29	chr7:104849600-104851600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:104849600-104852000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr7:104849600-104852000	Enhancers	Brain Substantia Nigra	brain
32	chr7:104849600-104852200	Enhancers	Primary B cells from peripheral blood	blood
33	chr7:104849600-104852200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr7:104849600-104852600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:104849600-104853800	Enhancers	Primary B cells from cord blood	blood
36	chr7:104849800-104851400	Enhancers	Fetal Brain Male	brain
37	chr7:104849800-104851600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr7:104849800-104851600	Enhancers	Brain Angular Gyrus	brain
39	chr7:104849800-104853600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr7:104850000-104851400	Enhancers	Fetal Brain Female	brain
41	chr7:104850000-104851600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:104850000-104851600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:104850000-104851600	Enhancers	Brain Germinal Matrix	brain
44	chr7:104850000-104851600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr7:104850000-104851600	Enhancers	HSMM	muscle
46	chr7:104850000-104852400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:104850000-104858400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:104850000-104858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:104850200-104852200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:104850400-104851600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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