Variant report

Variant	rs11496123
Chromosome Location	chr7:102076052-102076053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr7:102075801-102076152	GM12878	blood:	n/a	n/a
2	ZNF384	chr7:102075963-102076101	K562	blood:	n/a	n/a
3	POLR2A	chr7:102072954-102076059	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102044255..102045812-chr7:102074235..102076813,2	K562	blood:
2	chr7:102074336..102076927-chr7:102105688..102108273,2	K562	blood:

Variant related genes	Relation type
ENSG00000239480	TF binding region
ORAI2	TF binding region
ENSG00000128563	Chromatin interaction
ENSG00000161036	Chromatin interaction
ENSG00000266715	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10953364	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10953366	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11444	0.92[EUR][1000 genomes]
rs2049557	0.90[EUR][1000 genomes]
rs2410988	0.90[EUR][1000 genomes]
rs2410989	0.84[EUR][1000 genomes]
rs2960258	0.88[EUR][1000 genomes]
rs4338028	0.88[EUR][1000 genomes]
rs4729786	0.90[EUR][1000 genomes]
rs4729787	0.92[EUR][1000 genomes]
rs4729788	0.91[EUR][1000 genomes]
rs55743224	0.92[EUR][1000 genomes]
rs55995033	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58910789	0.90[EUR][1000 genomes]
rs6955864	0.90[EUR][1000 genomes]
rs6971258	0.85[EUR][1000 genomes]
rs73189811	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73189869	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7802423	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer 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 miRNA target site	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
21	esv1832541	chr7:102072448-102328097	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
22	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102074200-102076400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr7:102074600-102085400	Weak transcription	Gastric	stomach
3	chr7:102074600-102086800	Weak transcription	Aorta	Aorta
4	chr7:102074800-102076200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr7:102074800-102080400	Weak transcription	Small Intestine	intestine
6	chr7:102075000-102076400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr7:102075000-102076400	Enhancers	Spleen	Spleen
8	chr7:102075000-102079200	Weak transcription	HSMMtube	muscle
9	chr7:102075000-102079400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:102075000-102080400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:102075000-102080400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:102075000-102080600	Weak transcription	HSMM	muscle
13	chr7:102075000-102080800	Weak transcription	Right Atrium	heart
14	chr7:102075000-102082200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:102075000-102086800	Weak transcription	Fetal Lung	lung
16	chr7:102075000-102099800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:102075000-102104000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:102075200-102076400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:102075200-102076600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:102075200-102076600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:102075200-102076600	Enhancers	Fetal Thymus	thymus
22	chr7:102075200-102076800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:102075200-102077200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:102075200-102077200	Weak transcription	Brain Substantia Nigra	brain
25	chr7:102075200-102079000	Weak transcription	Fetal Intestine Small	intestine
26	chr7:102075200-102079200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:102075200-102079200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:102075200-102079200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:102075200-102079200	Weak transcription	Ovary	ovary
30	chr7:102075200-102079400	Weak transcription	Brain Angular Gyrus	brain
31	chr7:102075200-102079400	Weak transcription	NHLF	lung
32	chr7:102075200-102079600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:102075200-102079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:102075200-102080400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:102075200-102080400	Weak transcription	HMEC	breast
36	chr7:102075200-102080400	Weak transcription	NHDF-Ad	bronchial
37	chr7:102075200-102080600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:102075200-102080600	Weak transcription	Left Ventricle	heart
39	chr7:102075200-102080600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr7:102075200-102080600	Weak transcription	Hela-S3	cervix
41	chr7:102075200-102080600	Weak transcription	K562	blood
42	chr7:102075200-102080800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr7:102075200-102082000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:102075200-102085600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:102075200-102086800	Weak transcription	Liver	Liver
46	chr7:102075200-102086800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:102075200-102086800	Weak transcription	Colonic Mucosa	Colon
48	chr7:102075200-102086800	Weak transcription	Fetal Intestine Large	intestine
49	chr7:102075200-102087000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:102075200-102092000	Weak transcription	Esophagus	oesophagus

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