Variant report

Variant	rs62482973
Chromosome Location	chr7:100872815-100872816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100860437..100863699-chr7:100870903..100874854,4	K562	blood:
2	chr7:100867452..100869294-chr7:100872768..100875203,2	K562	blood:
3	chr7:100863732..100865673-chr7:100872305..100875910,3	K562	blood:

Variant related genes	Relation type
ENSG00000106400	Chromatin interaction
ENSG00000106397	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4352776	1.00[ASN][1000 genomes]
rs59413218	1.00[ASN][1000 genomes]
rs73712049	1.00[ASN][1000 genomes]
rs73712051	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv607973	chr7:100782460-100873835	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv607975	chr7:100804140-100873835	Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv464652	chr7:100804140-100881640	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv607976	chr7:100804140-100881640	Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv888817	chr7:100804140-100881640	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv607977	chr7:100818846-100881640	Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
17	nsv888818	chr7:100833153-100895480	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
18	nsv888819	chr7:100833153-100920007	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
19	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
20	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100862200-100875200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:100862400-100874400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:100862400-100875400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:100862400-100887000	Weak transcription	Fetal Kidney	kidney
5	chr7:100862800-100875400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:100863200-100874800	Weak transcription	HUVEC	blood vessel
7	chr7:100863200-100875000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:100863800-100875600	Weak transcription	Right Atrium	heart
9	chr7:100863800-100884000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:100863800-100886800	Weak transcription	Psoas Muscle	Psoas
11	chr7:100863800-100886800	Weak transcription	Hela-S3	cervix
12	chr7:100864000-100873800	Weak transcription	Stomach Mucosa	stomach
13	chr7:100864200-100875000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:100864400-100873800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:100864400-100874200	Strong transcription	Fetal Intestine Small	intestine
16	chr7:100864400-100875000	Strong transcription	Fetal Stomach	stomach
17	chr7:100864600-100873200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr7:100864600-100874000	Strong transcription	Fetal Muscle Leg	muscle
19	chr7:100864600-100874000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr7:100864600-100874200	Strong transcription	Fetal Intestine Large	intestine
21	chr7:100864800-100874400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:100865000-100873400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:100865000-100873800	Strong transcription	Lung	lung
24	chr7:100865000-100874600	Strong transcription	Primary T cells from cord blood	blood
25	chr7:100865000-100875800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:100865000-100884800	Strong transcription	Thymus	Thymus
27	chr7:100865600-100873600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:100865800-100873200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr7:100865800-100873800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:100866000-100873200	Strong transcription	Left Ventricle	heart
31	chr7:100867600-100874000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:100867600-100874400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:100867600-100880400	Weak transcription	Aorta	Aorta
34	chr7:100868200-100874000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:100868200-100875000	Weak transcription	NHEK	skin
36	chr7:100868400-100874000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:100868400-100874800	Weak transcription	HMEC	breast
38	chr7:100868400-100887600	Weak transcription	Small Intestine	intestine
39	chr7:100868600-100874000	Weak transcription	Pancreas	Pancrea
40	chr7:100868600-100874200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:100868800-100875000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:100868800-100875200	Weak transcription	NH-A	brain
43	chr7:100868800-100875200	Weak transcription	NHDF-Ad	bronchial
44	chr7:100868800-100880400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:100868800-100880600	Weak transcription	GM12878-XiMat	blood
46	chr7:100868800-100881600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:100868800-100884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr7:100869000-100874000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:100869000-100879200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:100869200-100874200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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