Variant report

Variant	rs2250208
Chromosome Location	chr8:95274357-95274358
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	JUN	chr8:95274312-95275227	K562	blood:	n/a	chr8:95274608-95274617
2	POLR2A	chr8:95274154-95274655	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:95273910-95274713	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:95264764-95275103	IMR90	lung:	n/a	n/a
5	USF1	chr8:95274355-95275032	SK-N-SH_RA	brain:	n/a	chr8:95274546-95274562 chr8:95274538-95274554 chr8:95274552-95274568 chr8:95274549-95274565
6	REST	chr8:95274203-95274883	A549	lung:	n/a	n/a
7	NFATC1	chr8:95274305-95274772	GM12878	blood:	n/a	n/a
8	ZBTB33	chr8:95274200-95274820	HCT-116	colon:	n/a	n/a
9	IRF4	chr8:95273750-95274509	GM12878	blood:	n/a	n/a
10	FOSL2	chr8:95274272-95274887	A549	lung:	n/a	chr8:95274608-95274617
11	TAF1	chr8:95274261-95274721	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr8:95270042-95274844	HCT-116	colon:	n/a	n/a
13	CREB1	chr8:95274188-95274731	A549	lung:	n/a	chr8:95274606-95274619
14	RAD21	chr8:95274139-95274787	H1-hESC	embryonic stem cell:	n/a	chr8:95274544-95274558
15	CTCF	chr8:95274325-95274740	K562	blood:	n/a	chr8:95274623-95274641 chr8:95274626-95274639 chr8:95274539-95274552 chr8:95274623-95274636
16	SP1	chr8:95274067-95274915	A549	lung:	n/a	n/a
17	WRNIP1	chr8:95273801-95275050	GM12878	blood:	n/a	n/a
18	RELA	chr8:95273973-95274799	GM12892	blood:	n/a	n/a
19	POLR2A	chr8:95274282-95274855	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr8:95274259-95274725	GM15510	blood:	n/a	n/a
21	MAX	chr8:95274134-95274748	ECC-1	luminal epithelium:	n/a	chr8:95274691-95274700
22	SRF	chr8:95274315-95274505	GM12878	blood:	n/a	chr8:95274424-95274438
23	STAT5A	chr8:95273818-95274816	GM12878	blood:	n/a	chr8:95274067-95274079
24	POLR2A	chr8:95274115-95274896	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr8:95274221-95274877	MCF-7	breast:	n/a	chr8:95274544-95274558
26	POLR2A	chr8:95273827-95274976	GM12891	blood:	n/a	n/a
27	RCOR1	chr8:95273871-95274878	GM12878	blood:	n/a	n/a
28	RUNX3	chr8:95274025-95274798	GM12878	blood:	n/a	n/a
29	TCF7L2	chr8:95274353-95274513	PANC-1	pancreas:	n/a	n/a
30	RFX5	chr8:95273859-95274797	GM12878	blood:	n/a	n/a
31	BATF	chr8:95274221-95274613	GM12878	blood:	n/a	n/a
32	USF2	chr8:95274125-95274928	GM12878	blood:	n/a	chr8:95274546-95274562 chr8:95274538-95274554 chr8:95274552-95274568 chr8:95274690-95274701 chr8:95274549-95274565
33	SRF	chr8:95274313-95274524	GM12878	blood:	n/a	chr8:95274424-95274438
34	POLR2A	chr8:95274192-95274790	MCF-7	breast:	n/a	n/a
35	FOXP2	chr8:95274294-95274821	SK-N-MC	brain:	n/a	n/a
36	POU2F2	chr8:95274190-95274675	GM12878	blood:	n/a	n/a
37	CREB1	chr8:95274343-95274799	K562	blood:	n/a	chr8:95274606-95274619
38	POLR2A	chr8:95274261-95274720	A549	lung:	n/a	n/a
39	TAF1	chr8:95274271-95274635	GM12891	blood:	n/a	n/a
40	MAZ	chr8:95274272-95274753	HepG2	liver:	n/a	chr8:95274691-95274700
41	FOXA2	chr8:95274338-95274745	A549	lung:	n/a	n/a
42	POLR2A	chr8:95274327-95274708	MCF10A-Er-Src	breast:	n/a	n/a
43	ZBTB7A	chr8:95274194-95274717	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr8:95274349-95274694	HUVEC	blood vessel:	n/a	n/a
45	PAX5	chr8:95274178-95274667	GM12878	blood:	n/a	chr8:95274617-95274626
46	RAD21	chr8:95274308-95274915	MCF-7	breast:	n/a	chr8:95274544-95274558
47	ATF2	chr8:95274203-95274898	GM12878	blood:	n/a	chr8:95274607-95274618
48	TAF1	chr8:95274286-95274616	GM12878	blood:	n/a	n/a
49	MAX	chr8:95274219-95274743	ECC-1	luminal epithelium:	n/a	chr8:95274691-95274700
50	JUND	chr8:95274296-95274760	A549	lung:	n/a	chr8:95274608-95274617

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:95274342-95274392	GM12878	blood:	n/a
2	chr8:95274342-95274392	HCT-116	colon:	n/a
3	chr8:95274342-95274392	NB4	blood:	n/a
4	chr8:95274342-95274392	HMEC	breast:	n/a
5	chr8:95274342-95274392	Hela-S3	cervix:	n/a
6	chr8:95274342-95274392	AoSMC	blood vessel:	n/a
7	chr8:95274342-95274392	BE2_C	brain:	n/a
8	chr8:95274342-95274392	GM12892	blood:	n/a
9	chr8:95274342-95274392	A549	lung:	n/a
10	chr8:95274342-95274392	CMK	blood:	n/a
11	chr8:95274342-95274392	AG04450	lung:	fetal
12	chr8:95274342-95274392	Hepatocyte	liver:	n/a
13	chr8:95274342-95274392	AG10803	skin:	n/a
14	chr8:95274342-95274392	AG09309	skin:	n/a
15	chr8:95274342-95274392	SK-N-MC	brain:	n/a
16	chr8:95274342-95274392	HIPEpiC	eye:	n/a
17	chr8:95274342-95274392	SKMC	muscle:	n/a
18	chr8:95274342-95274392	Jurkat	blood:	n/a
19	chr8:95274342-95274392	NHDF-neo	bronchial:	n/a
20	chr8:95274342-95274392	HCM	heart:	n/a
21	chr8:95274342-95274392	BJ	skin:	n/a
22	chr8:95274342-95274392	SK-N-SH_RA	brain:	n/a
23	chr8:95274342-95274392	SK-N-SH	brain:	n/a
24	chr8:95274342-95274392	HRE	kidney:	n/a
25	chr8:95274342-95274392	GM12891	blood:	n/a
26	chr8:95274342-95274392	MCF-7	breast:	n/a
27	chr8:95274342-95274392	T-47D	breast:	n/a
28	chr8:95274342-95274392	K562	blood:	n/a
29	chr8:95274342-95274392	HCF	heart:	n/a
30	chr8:95274342-95274392	PFSK-1	brain:	n/a
31	chr8:95274342-95274392	HEK293	kidney:	embryo
32	chr8:95274342-95274392	H1-hESC	embryonic stem cell:	embryo
33	chr8:95274342-95274392	PrEC	prostate:	n/a
34	chr8:95274342-95274392	HEEpiC	esophagus:	n/a
35	chr8:95274342-95274392	HL-60	blood:	n/a
36	chr8:95274342-95274392	ovcar-3	ovarian:	n/a
37	chr8:95274342-95274392	GM06990	blood:	n/a
38	chr8:95274342-95274392	NH-A	brain:	n/a
39	chr8:95274342-95274392	U87	brain:	n/a
40	chr8:95274342-95274392	HepG2	liver:	n/a
41	chr8:95274342-95274392	MCF10A-Er-Src	breast:	n/a
42	chr8:95274342-95274392	HRPEpiC	eye:	n/a
43	chr8:95274342-95274392	HAEpiC	amniotic membrane:	n/a
44	chr8:95274342-95274392	HNPCEpiC	eye:	n/a
45	chr8:95274342-95274392	NHBE	bronchial:	n/a
46	chr8:95274342-95274392	HRCEpiC	kidney:	n/a
47	chr8:95274342-95274392	ProgFib	skin:	n/a
48	chr8:95274342-95274392	Caco-2	colon:	n/a
49	chr8:95274342-95274392	HPAEpiC	pulmonary alveolar:	n/a
50	chr8:95274342-95274392	SAEC	small airway:	n/a

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1050616	0.81[CEU][hapmap];0.84[GIH][hapmap];0.83[MEX][hapmap]
rs2445715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445716	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470722	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470723	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470724	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470725	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470726	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2514791	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs923313	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs977274	0.83[MEX][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	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh 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	8 gene(s)	inside rSNPs	diseases
3	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1022382	chr8:95261955-95283587	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1023617	chr8:95261955-95284414	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95270200-95274800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:95270200-95275000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:95270600-95274800	Active TSS	Brain Anterior Caudate	brain
4	chr8:95271000-95274800	Active TSS	Brain Cingulate Gyrus	brain
5	chr8:95271200-95274800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr8:95271200-95274800	Active TSS	Brain Substantia Nigra	brain
7	chr8:95271600-95274800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:95271800-95275000	Active TSS	Colonic Mucosa	Colon
9	chr8:95272600-95274600	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr8:95272600-95274800	Active TSS	Brain Angular Gyrus	brain
11	chr8:95272600-95275000	Active TSS	Esophagus	oesophagus
12	chr8:95272800-95274800	Active TSS	Fetal Brain Female	brain
13	chr8:95272800-95275000	Active TSS	Ovary	ovary
14	chr8:95273000-95274400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:95273000-95274800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr8:95273000-95274800	Active TSS	Rectal Smooth Muscle	rectum
17	chr8:95273200-95274400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:95273200-95274600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:95273200-95274600	Active TSS	Placenta Amnion	Placenta Amnion
20	chr8:95273200-95274800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr8:95273200-95274800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:95273200-95274800	Active TSS	Psoas Muscle	Psoas
23	chr8:95273200-95274800	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr8:95273200-95274800	Active TSS	Stomach Mucosa	stomach
25	chr8:95273200-95274800	Active TSS	HSMMtube	muscle
26	chr8:95273200-95274800	Active TSS	NHLF	lung
27	chr8:95273200-95275000	Active TSS	Aorta	Aorta
28	chr8:95273200-95275000	Active TSS	Right Ventricle	heart
29	chr8:95273400-95274400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr8:95273400-95274600	Active TSS	Fetal Muscle Trunk	muscle
31	chr8:95273400-95274800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:95273400-95274800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:95273400-95274800	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr8:95273400-95274800	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr8:95273400-95274800	Active TSS	Muscle Satellite Cultured Cells	--
36	chr8:95273400-95274800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:95273400-95274800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:95273400-95274800	Active TSS	Brain Hippocampus Middle	brain
39	chr8:95273400-95274800	Active TSS	Colon Smooth Muscle	Colon
40	chr8:95273400-95274800	Active TSS	Duodenum Mucosa	Duodenum
41	chr8:95273400-95274800	Active TSS	Left Ventricle	heart
42	chr8:95273400-95274800	Active TSS	A549	lung
43	chr8:95273400-95274800	Active TSS	NHDF-Ad	bronchial
44	chr8:95273400-95275000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:95273400-95275000	Active TSS	Right Atrium	heart
46	chr8:95273600-95274400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr8:95273600-95274400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:95273600-95274600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:95273600-95274600	Active TSS	Fetal Kidney	kidney
50	chr8:95273600-95274600	Active TSS	NH-A	brain

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