Variant report

Variant	rs12332812
Chromosome Location	chr6:71123747-71123748
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	CREB1	chr6:71122546-71123757	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:71123698-71123754	A549	lung:	n/a	n/a
3	POLR2A	chr6:71122296-71124175	SK-N-MC	brain:	n/a	n/a
4	MAX	chr6:71122487-71124119	A549	lung:	n/a	chr6:71123792-71123808 chr6:71123800-71123811 chr6:71123796-71123815 chr6:71123801-71123811 chr6:71123092-71123102
5	POLR2A	chr6:71122120-71124084	K562	blood:	n/a	n/a
6	E2F6	chr6:71122427-71124217	K562	blood:	n/a	chr6:71122913-71122920 chr6:71123793-71123802 chr6:71122908-71122922 chr6:71122937-71122951 chr6:71122936-71122951
7	POLR2A	chr6:71122499-71124106	GM18505	blood:	n/a	n/a
8	POLR2A	chr6:71122317-71124183	GM19099	blood:	n/a	n/a
9	MAX	chr6:71123575-71124016	K562	blood:	n/a	chr6:71123792-71123808 chr6:71123800-71123811 chr6:71123796-71123815 chr6:71123801-71123811
10	POLR2A	chr6:71121858-71124306	GM12878	blood:	n/a	n/a
11	SIN3A	chr6:71122392-71124181	H1-hESC	embryonic stem cell:	n/a	chr6:71123005-71123014
12	POLR2A	chr6:71122511-71124048	NB4	blood:	n/a	n/a
13	SIN3AK20	chr6:71123552-71123924	K562	blood:	n/a	n/a
14	RCOR1	chr6:71123535-71124096	Hela-S3	cervix:	n/a	n/a
15	TAF1	chr6:71122776-71123801	HepG2	liver:	n/a	n/a
16	E2F6	chr6:71123574-71123928	K562	blood:	n/a	chr6:71123793-71123802
17	POLR2A	chr6:71122659-71123824	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:71122435-71124163	Raji	blood:	n/a	n/a
19	SPI1	chr6:71123549-71124182	HL-60	blood:	n/a	n/a
20	SMARCC1	chr6:71122616-71124146	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr6:71123676-71123847	Gliobla	brain:	n/a	n/a
22	MXI1	chr6:71122639-71124040	GM12878	blood:	n/a	chr6:71123802-71123811
23	POLR2A	chr6:71122542-71124150	GM12878	blood:	n/a	n/a
24	TBP	chr6:71122409-71124050	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr6:71122538-71123820	GM12878	blood:	n/a	n/a
26	YY1	chr6:71123632-71124262	H1-hESC	embryonic stem cell:	n/a	chr6:71123659-71123670
27	YY1	chr6:71123175-71124236	H1-hESC	embryonic stem cell:	n/a	chr6:71123524-71123533 chr6:71123659-71123670 chr6:71123524-71123535
28	RCOR1	chr6:71123690-71124184	GM12878	blood:	n/a	n/a
29	UBTF	chr6:71122705-71123930	K562	blood:	n/a	n/a
30	POLR2A	chr6:71121804-71123819	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:71122348-71123952	GM19193	blood:	n/a	n/a
32	POLR2A	chr6:71123061-71123754	A549	lung:	n/a	n/a
33	MAX	chr6:71122506-71124028	K562	blood:	n/a	chr6:71123792-71123808 chr6:71123800-71123811 chr6:71123796-71123815 chr6:71123801-71123811 chr6:71123092-71123102
34	MAX	chr6:71122525-71124001	K562	blood:	n/a	chr6:71123792-71123808 chr6:71123800-71123811 chr6:71123796-71123815 chr6:71123801-71123811 chr6:71123092-71123102
35	POLR2A	chr6:71122511-71124120	H1-neurons	neurons:	n/a	n/a
36	MYC	chr6:71123680-71123784	MCF-7	breast:	n/a	n/a
37	CHD1	chr6:71123677-71124102	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr6:71122487-71123859	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZBTB7A	chr6:71123057-71123907	K562	blood:	n/a	chr6:71123057-71123064
40	ELF1	chr6:71122838-71123946	GM12878	blood:	n/a	chr6:71123655-71123667 chr6:71123520-71123532
41	TBP	chr6:71122342-71124141	K562	blood:	n/a	n/a
42	MAX	chr6:71122545-71123971	Hela-S3	cervix:	n/a	chr6:71123792-71123808 chr6:71123800-71123811 chr6:71123796-71123815 chr6:71123801-71123811 chr6:71123092-71123102
43	CREB1	chr6:71122419-71123900	GM12878	blood:	n/a	n/a
44	RCOR1	chr6:71122502-71124302	K562	blood:	n/a	n/a
45	SPI1	chr6:71123659-71124151	GM12878	blood:	n/a	n/a
46	CHD2	chr6:71122389-71124108	GM12878	blood:	n/a	chr6:71122913-71122920 chr6:71123094-71123104
47	UBTF	chr6:71122582-71124219	K562	blood:	n/a	n/a
48	POLR2A	chr6:71123117-71123766	MCF-7	breast:	n/a	n/a
49	POLR2A	chr6:71122549-71124221	H1-neurons	neurons:	n/a	n/a
50	HMGN3	chr6:71122708-71123854	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71121490..71124764-chr6:71274758..71276919,3	K562	blood:
2	chr6:71123174..71124742-chr6:71275552..71278057,2	K562	blood:

Variant related genes	Relation type
ENSG00000224349	TF binding region
ENSG00000154079	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10080714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10440813	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs10485117	0.86[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332923	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs16869217	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs16869242	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs16869261	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs16869301	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2207424	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2223997	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs28555262	0.84[AFR][1000 genomes]
rs28885692	0.84[AFR][1000 genomes]
rs3846749	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs747454	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294867	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294869	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294870	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294873	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9446243	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446244	0.89[YRI][hapmap];0.90[AFR][1000 genomes]
rs9446247	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446251	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9446253	0.86[AFR][1000 genomes]
rs9446255	0.95[AFR][1000 genomes]
rs9446256	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9446257	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9446259	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9446260	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446261	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446262	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446263	0.82[AFR][1000 genomes]
rs9446264	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9446265	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446266	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs9446277	0.92[LWK][hapmap]
rs9455091	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455096	0.91[YRI][hapmap]
rs9455102	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455103	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455107	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455109	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455110	0.95[AFR][1000 genomes]
rs9455112	0.95[AFR][1000 genomes]
rs9455115	0.89[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455116	0.95[AFR][1000 genomes]
rs9455117	0.90[AFR][1000 genomes]
rs9455118	0.88[AFR][1000 genomes]
rs9455119	0.88[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455120	0.86[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455122	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455123	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455124	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455126	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455127	0.91[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455128	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455131	0.86[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455134	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9455135	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455136	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455137	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455141	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455142	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455143	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455145	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455146	0.85[AFR][1000 genomes]
rs9455147	0.84[AFR][1000 genomes]
rs9455148	0.84[AFR][1000 genomes]
rs9455152	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455154	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455155	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9455157	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455159	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1026229	chr6:71016272-71183503	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1032876	chr6:71048428-71145166	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1027161	chr6:71106657-71145166	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71121400-71125200	Active TSS	Rectal Smooth Muscle	rectum
2	chr6:71121800-71124400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:71121800-71124600	Active TSS	Fetal Kidney	kidney
4	chr6:71121800-71124800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:71122000-71123800	Active TSS	Muscle Satellite Cultured Cells	--
6	chr6:71122000-71124000	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr6:71122000-71124000	Active TSS	Hela-S3	cervix
8	chr6:71122000-71124000	Active TSS	NHLF	lung
9	chr6:71122000-71124200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:71122000-71124400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr6:71122000-71124400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:71122000-71124400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr6:71122000-71124400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:71122000-71124600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:71122000-71124600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:71122000-71124600	Active TSS	Colonic Mucosa	Colon
17	chr6:71122000-71124600	Active TSS	Stomach Smooth Muscle	stomach
18	chr6:71122000-71124800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:71122000-71124800	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr6:71122000-71125000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:71122000-71125200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:71122000-71126200	Active TSS	GM12878-XiMat	blood
23	chr6:71122200-71123800	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr6:71122200-71123800	Active TSS	Fetal Muscle Leg	muscle
25	chr6:71122200-71124000	Active TSS	NHDF-Ad	bronchial
26	chr6:71122200-71124200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr6:71122200-71124200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:71122200-71124200	Active TSS	Colon Smooth Muscle	Colon
29	chr6:71122200-71124200	Active TSS	Fetal Brain Male	brain
30	chr6:71122200-71124200	Active TSS	HSMMtube	muscle
31	chr6:71122200-71124200	Active TSS	NH-A	brain
32	chr6:71122200-71124400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:71122200-71124400	Active TSS	Fetal Muscle Trunk	muscle
34	chr6:71122200-71124600	Active TSS	Fetal Stomach	stomach
35	chr6:71122200-71124600	Active TSS	Ovary	ovary
36	chr6:71122200-71124600	Active TSS	Right Atrium	heart
37	chr6:71122200-71124600	Active TSS	Right Ventricle	heart
38	chr6:71122200-71124600	Active TSS	Thymus	Thymus
39	chr6:71122200-71124800	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr6:71122200-71124800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:71122200-71124800	Active TSS	A549	lung
42	chr6:71122200-71124800	Active TSS	K562	blood
43	chr6:71122200-71125200	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr6:71122200-71125200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr6:71122200-71125200	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr6:71122200-71125400	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr6:71122400-71123800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:71122400-71123800	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr6:71122400-71123800	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr6:71122400-71124000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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