Variant report

Variant	rs2303926
Chromosome Location	chr7:150733025-150733026
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr7:150732674-150733252	A549	lung:	n/a	n/a
2	HMGN3	chr7:150732910-150733106	K562	blood:	n/a	n/a
3	NR3C1	chr7:150732676-150733211	A549	lung:	n/a	n/a
4	NR3C1	chr7:150732696-150733254	A549	lung:	n/a	n/a
5	NR3C1	chr7:150732840-150733139	A549	lung:	n/a	n/a
6	POLR2A	chr7:150732662-150733113	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150733014-150733064	HNPCEpiC	eye:	n/a
2	chr7:150733014-150733064	MCF-7	breast:	n/a
3	chr7:150733014-150733064	ProgFib	skin:	n/a
4	chr7:150733014-150733064	HUVEC	blood vessel:	n/a
5	chr7:150733014-150733064	PFSK-1	brain:	n/a
6	chr7:150733014-150733064	HRCEpiC	kidney:	n/a
7	chr7:150733014-150733064	NB4	blood:	n/a
8	chr7:150733014-150733064	AG10803	skin:	n/a
9	chr7:150733014-150733064	HEK293	kidney:	embryo
10	chr7:150733014-150733064	GM12878	blood:	n/a
11	chr7:150733014-150733064	GM06990	blood:	n/a
12	chr7:150733014-150733064	HIPEpiC	eye:	n/a
13	chr7:150733014-150733064	HPAEpiC	pulmonary alveolar:	n/a
14	chr7:150733014-150733064	ovcar-3	ovarian:	n/a
15	chr7:150733014-150733064	AoSMC	blood vessel:	n/a
16	chr7:150733014-150733064	BJ	skin:	n/a
17	chr7:150733014-150733064	U87	brain:	n/a
18	chr7:150733014-150733064	HepG2	liver:	n/a
19	chr7:150733014-150733064	HCM	heart:	n/a
20	chr7:150733014-150733064	BE2_C	brain:	n/a
21	chr7:150733014-150733064	SAEC	small airway:	n/a
22	chr7:150733014-150733064	Hepatocyte	liver:	n/a
23	chr7:150733014-150733064	RPTEC	kidney:	n/a
24	chr7:150733014-150733064	MCF10A-Er-Src	breast:	n/a
25	chr7:150733014-150733064	Hela-S3	cervix:	n/a
26	chr7:150733014-150733064	A549	lung:	n/a
27	chr7:150733014-150733064	HEEpiC	esophagus:	n/a
28	chr7:150733014-150733064	GM19239	blood:	n/a
29	chr7:150733014-150733064	HRPEpiC	eye:	n/a
30	chr7:150733014-150733064	HRE	kidney:	n/a
31	chr7:150733014-150733064	NT2-D1	testis:	n/a
32	chr7:150733014-150733064	HCF	heart:	n/a
33	chr7:150733014-150733064	AG09309	skin:	n/a
34	chr7:150733014-150733064	PANC-1	pancreas:	n/a
35	chr7:150733014-150733064	Jurkat	blood:	n/a
36	chr7:150733014-150733064	HAEpiC	amniotic membrane:	n/a
37	chr7:150733014-150733064	AG04449	skin:	fetal
38	chr7:150733014-150733064	HMEC	breast:	n/a
39	chr7:150733014-150733064	SK-N-SH_RA	brain:	n/a
40	chr7:150733014-150733064	T-47D	breast:	n/a
41	chr7:150733014-150733064	NHBE	bronchial:	n/a
42	chr7:150733014-150733064	GM12892	blood:	n/a
43	chr7:150733014-150733064	HCT-116	colon:	n/a
44	chr7:150733014-150733064	SKMC	muscle:	n/a
45	chr7:150733014-150733064	AG04450	lung:	fetal
46	chr7:150733014-150733064	H1-hESC	embryonic stem cell:	embryo
47	chr7:150733014-150733064	SK-N-MC	brain:	n/a
48	chr7:150733014-150733064	CMK	blood:	n/a
49	chr7:150733014-150733064	NH-A	brain:	n/a
50	chr7:150733014-150733064	K562	blood:	n/a

No data

Variant related genes	Relation type
ABCB8	TF binding region
ABCB8	CpG island

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12539332	0.89[ASN][1000 genomes]
rs2116023	0.92[ASN][1000 genomes]
rs2303922	0.93[ASN][1000 genomes]
rs2303924	0.94[ASN][1000 genomes]
rs2373927	0.93[ASN][1000 genomes]
rs35900662	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148848	0.94[ASN][1000 genomes]
rs61218626	0.92[ASN][1000 genomes]
rs6944859	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6944935	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947821	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv889475	chr7:150729212-150742700	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription 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	120 gene(s)	inside rSNPs	diseases
13	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
14	esv1844711	chr7:150731698-150743820	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv609011	chr7:150731698-150743820	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv524928	chr7:150731698-150766799	Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS 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	28 gene(s)	inside rSNPs	diseases
17	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
18	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150726200-150735800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:150726400-150735800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:150726400-150736600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:150726400-150743600	Weak transcription	Fetal Kidney	kidney
5	chr7:150726400-150744200	Weak transcription	Right Atrium	heart
6	chr7:150726400-150745000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:150726600-150735800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:150726600-150736000	Weak transcription	Fetal Heart	heart
9	chr7:150726600-150736000	Weak transcription	HepG2	liver
10	chr7:150726600-150736200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:150726600-150745400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:150726800-150735000	Weak transcription	NHDF-Ad	bronchial
13	chr7:150727000-150733400	Weak transcription	NH-A	brain
14	chr7:150727000-150735600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:150727000-150735600	Weak transcription	HUVEC	blood vessel
16	chr7:150727000-150746400	Weak transcription	Fetal Brain Male	brain
17	chr7:150727200-150733400	Weak transcription	Hela-S3	cervix
18	chr7:150727200-150736600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:150727800-150744400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:150728000-150734600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:150728000-150734600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr7:150728000-150735200	Strong transcription	Primary T cells from cord blood	blood
23	chr7:150728000-150735200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:150728200-150735000	Strong transcription	Dnd41	blood
25	chr7:150728200-150735200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:150728200-150735800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:150728200-150736000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:150728200-150736400	Weak transcription	GM12878-XiMat	blood
29	chr7:150728400-150734400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:150728400-150735000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:150728400-150735000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:150728400-150735600	Strong transcription	Fetal Intestine Small	intestine
33	chr7:150728400-150735600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr7:150728400-150735800	Strong transcription	Fetal Muscle Leg	muscle
35	chr7:150728600-150735000	Strong transcription	K562	blood
36	chr7:150728800-150734800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:150728800-150735000	Strong transcription	Esophagus	oesophagus
38	chr7:150728800-150736600	Strong transcription	Brain Hippocampus Middle	brain
39	chr7:150728800-150742400	Strong transcription	Fetal Stomach	stomach
40	chr7:150729000-150734600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr7:150729200-150734600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:150729200-150734600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr7:150729200-150734800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:150729200-150735200	Strong transcription	Thymus	Thymus
45	chr7:150729200-150744000	Strong transcription	Fetal Brain Female	brain
46	chr7:150729400-150735200	Strong transcription	Brain Cingulate Gyrus	brain
47	chr7:150729800-150734600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:150729800-150735000	Strong transcription	Lung	lung
49	chr7:150729800-150735200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr7:150729800-150735200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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