Variant report

Variant	rs1384797
Chromosome Location	chr8:54793928-54793929
allele	A/G
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	TAF1	chr8:54792329-54794064	A549	lung:	n/a	n/a
2	RAD21	chr8:54793045-54793991	A549	lung:	n/a	n/a
3	POLR2A	chr8:54792121-54794362	Hela-S3	cervix:	n/a	n/a
4	RCOR1	chr8:54792324-54794370	Hela-S3	cervix:	n/a	n/a
5	CUX1	chr8:54793788-54793929	K562	blood:	n/a	n/a
6	SIN3AK20	chr8:54793686-54794023	A549	lung:	n/a	n/a
7	CTCF	chr8:54793840-54793990	HCM	heart:	n/a	n/a
8	ZNF384	chr8:54793769-54794262	K562	blood:	n/a	n/a
9	TBL1XR1	chr8:54793301-54794698	GM12878	blood:	n/a	n/a
10	SMARCB1	chr8:54792173-54794704	Hela-S3	cervix:	n/a	n/a
11	HCFC1	chr8:54791962-54794202	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr8:54793003-54794201	GM12878	blood:	n/a	chr8:54793364-54793377
13	SUZ12	chr8:54793449-54795336	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr8:54792241-54794547	A549	lung:	n/a	chr8:54793415-54793424 chr8:54794462-54794474 chr8:54792932-54792944 chr8:54793498-54793505 chr8:54794337-54794347 chr8:54793415-54793427 chr8:54794476-54794488
15	MAX	chr8:54792260-54794289	K562	blood:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705 chr8:54794208-54794217
16	MAZ	chr8:54792034-54794351	Hela-S3	cervix:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705 chr8:54794208-54794217
17	POLR2A	chr8:54792211-54794479	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr8:54793120-54793945	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr8:54792980-54794134	H1-neurons	neurons:	n/a	n/a
20	E2F6	chr8:54792743-54794063	H1-hESC	embryonic stem cell:	n/a	chr8:54793415-54793424 chr8:54792932-54792944 chr8:54793498-54793505 chr8:54793415-54793427
21	MAX	chr8:54792346-54794026	HepG2	liver:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705
22	IRF1	chr8:54793324-54793959	K562	blood:	n/a	chr8:54793414-54793428 chr8:54793490-54793502
23	MAX	chr8:54792315-54794006	NB4	blood:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705
24	TCF12	chr8:54792161-54794891	A549	lung:	n/a	n/a
25	POLR2A	chr8:54793444-54794262	K562	blood:	n/a	n/a
26	MAX	chr8:54792287-54794502	ECC-1	luminal epithelium:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705 chr8:54794208-54794217
27	SMC3	chr8:54793063-54794381	Hela-S3	cervix:	n/a	chr8:54793869-54793876
28	POLR2A	chr8:54793134-54795551	GM12878	blood:	n/a	n/a
29	MAZ	chr8:54792322-54794782	K562	blood:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705 chr8:54794208-54794217
30	SIN3A	chr8:54791311-54795214	H1-hESC	embryonic stem cell:	n/a	chr8:54792399-54792409 chr8:54795023-54795036 chr8:54793768-54793779 chr8:54794395-54794408
31	RUNX3	chr8:54793671-54793934	GM12878	blood:	n/a	n/a
32	MAX	chr8:54792243-54794073	H1-hESC	embryonic stem cell:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705
33	CEBPB	chr8:54793075-54794228	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr8:54793145-54793972	GM12878	blood:	n/a	chr8:54793775-54793785 chr8:54793416-54793426 chr8:54793498-54793505
35	POLR2A	chr8:54792364-54795602	GM12878	blood:	n/a	n/a
36	MAX	chr8:54792383-54793949	GM12878	blood:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705
37	POLR2A	chr8:54793066-54795601	GM12878	blood:	n/a	n/a
38	CEBPB	chr8:54793893-54793950	HepG2	liver:	n/a	n/a
39	HCFC1	chr8:54793222-54793947	K562	blood:	n/a	n/a
40	POLR2A	chr8:54792251-54794437	MCF10A-Er-Src	breast:	n/a	n/a
41	RCOR1	chr8:54793184-54794423	K562	blood:	n/a	n/a
42	E2F4	chr8:54792814-54794281	K562	blood:	n/a	chr8:54793415-54793424 chr8:54792932-54792944 chr8:54793498-54793505 chr8:54793415-54793427
43	SMC3	chr8:54793200-54794000	K562	blood:	n/a	chr8:54793869-54793876
44	MAX	chr8:54792415-54794582	K562	blood:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705 chr8:54794208-54794217
45	BCL3	chr8:54793597-54794014	A549	lung:	n/a	n/a
46	NRF1	chr8:54792830-54793968	SK-N-SH	brain:	n/a	chr8:54793172-54793181 chr8:54793571-54793582 chr8:54793415-54793424
47	E2F6	chr8:54791374-54794094	H1-hESC	embryonic stem cell:	n/a	chr8:54793415-54793424 chr8:54792932-54792944 chr8:54793498-54793505 chr8:54793415-54793427
48	RAD21	chr8:54793151-54793997	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr8:54793624-54794000	H1-neurons	neurons:	n/a	n/a
50	CTCF	chr8:54793780-54793930	GM12875	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:54791937..54794536-chr8:55012642..55014305,2	K562	blood:
2	chr8:54788748..54791564-chr8:54792392..54794472,3	K562	blood:
3	chr8:54755454..54757105-chr8:54791568..54794141,2	K562	blood:
4	chr8:54792772..54795313-chr8:55047110..55049629,2	MCF-7	breast:
5	chr6:36561901..36562650-chr8:54793415..54793991,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000272457	TF binding region
ENSG00000137547	Chromatin interaction
ENSG00000047249	Chromatin interaction
ENSG00000272457	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000120992	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1004228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504158	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11985729	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1483538	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1483539	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1483540	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1483542	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16919616	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1842982	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1842983	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1842984	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2062226	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2306584	0.84[EUR][1000 genomes]
rs3824121	1.00[CEU][hapmap]
rs4518622	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57546155	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57553178	0.99[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58652215	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60696924	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60819522	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61194604	0.82[ASN][1000 genomes]
rs61231337	0.85[ASN][1000 genomes]
rs61433056	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6473894	1.00[CEU][hapmap]
rs6994332	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6997050	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6998532	1.00[CEU][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7016171	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7017291	1.00[CEU][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7017967	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73680325	0.84[EUR][1000 genomes]
rs73680341	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73680342	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73680346	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7827611	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7831399	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7846259	1.00[CEU][hapmap];0.81[GIH][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54791200-54795600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:54791600-54794000	Bivalent/Poised TSS	Fetal Brain Female	brain
3	chr8:54791600-54795000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr8:54791600-54795200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:54791600-54795200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:54791600-54795200	Active TSS	A549	lung
7	chr8:54791600-54795200	Active TSS	NHDF-Ad	bronchial
8	chr8:54791800-54794000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
9	chr8:54791800-54794600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
10	chr8:54791800-54794800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr8:54791800-54795000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
12	chr8:54791800-54795200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:54791800-54795200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr8:54791800-54795200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr8:54791800-54795200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
16	chr8:54791800-54795400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:54791800-54795600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:54792000-54794000	Bivalent Enhancer	Fetal Brain Male	brain
19	chr8:54792000-54794800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:54792000-54795000	Active TSS	Right Atrium	heart
21	chr8:54792000-54795000	Flanking Active TSS	Right Ventricle	heart
22	chr8:54792000-54795000	Active TSS	Hela-S3	cervix
23	chr8:54792000-54795200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
24	chr8:54792000-54795200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
25	chr8:54792000-54795400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
26	chr8:54792000-54795400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr8:54792200-54794000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr8:54792200-54794000	Bivalent/Poised TSS	HSMMtube	muscle
29	chr8:54792200-54794600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
30	chr8:54792200-54794600	Bivalent/Poised TSS	Aorta	Aorta
31	chr8:54792200-54794600	Flanking Active TSS	Pancreas	Pancrea
32	chr8:54792200-54794800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
33	chr8:54792200-54795000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:54792200-54795000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:54792200-54795200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:54792200-54795200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr8:54792200-54795200	Active TSS	NHLF	lung
38	chr8:54792200-54795400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
39	chr8:54792200-54795400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr8:54792200-54795600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:54792400-54794000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:54792400-54794400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:54792400-54794400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
44	chr8:54792400-54794400	Bivalent/Poised TSS	Fetal Thymus	thymus
45	chr8:54792400-54794600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr8:54792400-54795000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:54792400-54795200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:54792400-54795200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
49	chr8:54792600-54794000	Active TSS	K562	blood
50	chr8:54792600-54794200	Bivalent/Poised TSS	Left Ventricle	heart

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