Variant report

Variant	rs11075906
Chromosome Location	chr16:71918675-71918676
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	MAX	chr16:71917295-71918780	HepG2	liver:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71917463-71917472 chr16:71918283-71918293
2	POLR2A	chr16:71916890-71918799	H1-neurons	neurons:	n/a	n/a
3	TAF1	chr16:71918398-71918682	K562	blood:	n/a	n/a
4	BACH1	chr16:71918322-71918690	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr16:71917725-71918726	H1-hESC	embryonic stem cell:	n/a	n/a
6	PML	chr16:71917742-71918695	GM12878	blood:	n/a	n/a
7	TAF1	chr16:71916835-71918785	H1-neurons	neurons:	n/a	n/a
8	MYC	chr16:71917874-71918685	NB4	blood:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918283-71918293
9	POLR2A	chr16:71916839-71918754	H1-neurons	neurons:	n/a	n/a
10	ZBTB7A	chr16:71916839-71918759	ECC-1	luminal epithelium:	n/a	chr16:71917750-71917759
11	MAX	chr16:71917584-71918799	A549	lung:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918283-71918293
12	SIN3AK20	chr16:71918513-71918796	H1-hESC	embryonic stem cell:	n/a	n/a
13	HDAC2	chr16:71918341-71918722	H1-hESC	embryonic stem cell:	n/a	n/a
14	MTA3	chr16:71918135-71918703	GM12878	blood:	n/a	n/a
15	CHD1	chr16:71918660-71918794	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr16:71917693-71918723	SK-N-MC	brain:	n/a	n/a
17	RCOR1	chr16:71917021-71918708	K562	blood:	n/a	n/a
18	MAX	chr16:71917581-71918764	K562	blood:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918283-71918293
19	MAX	chr16:71917718-71918722	K562	blood:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918283-71918293
20	MAX	chr16:71917930-71918694	H1-hESC	embryonic stem cell:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918283-71918293
21	REST	chr16:71916268-71918981	H1-neurons	neurons:	n/a	chr16:71917704-71917722 chr16:71917883-71917896 chr16:71918681-71918699 chr16:71918681-71918694 chr16:71917886-71917899 chr16:71918678-71918691 chr16:71917703-71917723
22	MAX	chr16:71917931-71918739	H1-hESC	embryonic stem cell:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918283-71918293
23	SP4	chr16:71918003-71918716	H1-hESC	embryonic stem cell:	n/a	chr16:71918283-71918294 chr16:71918177-71918193 chr16:71918567-71918583
24	MAX	chr16:71918201-71918688	A549	lung:	n/a	chr16:71918570-71918580 chr16:71918283-71918293
25	MAX	chr16:71917930-71918755	SK-N-SH	brain:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918283-71918293
26	MAZ	chr16:71917155-71918748	K562	blood:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71917463-71917472 chr16:71918283-71918293
27	MAX	chr16:71917958-71918692	GM12878	blood:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918283-71918293
28	MXI1	chr16:71917220-71918862	IMR90	lung:	n/a	n/a
29	MAX	chr16:71918286-71918766	MCF-7	breast:	n/a	chr16:71918570-71918580
30	YY1	chr16:71918513-71918857	GM12878	blood:	n/a	n/a
31	JUND	chr16:71917771-71918692	K562	blood:	n/a	n/a
32	POLR2A	chr16:71917671-71918719	HUVEC	blood vessel:	n/a	n/a
33	MAX	chr16:71917901-71918747	SK-N-SH	brain:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918283-71918293
34	REST	chr16:71917804-71918759	H1-neurons	neurons:	n/a	chr16:71917883-71917896 chr16:71918681-71918699 chr16:71918681-71918694 chr16:71917886-71917899 chr16:71918678-71918691
35	CBX3	chr16:71918228-71918710	K562	blood:	n/a	n/a
36	POLR2A	chr16:71916938-71918675	GM18505	blood:	n/a	n/a
37	SMC3	chr16:71916289-71918777	SK-N-SH	brain:	n/a	n/a
38	ZNF384	chr16:71917930-71918883	K562	blood:	n/a	n/a
39	RUNX3	chr16:71917796-71918740	GM12878	blood:	n/a	chr16:71918419-71918434 chr16:71918412-71918429
40	E2F6	chr16:71917383-71918680	K562	blood:	n/a	chr16:71917850-71917859 chr16:71918131-71918140 chr16:71917869-71917884
41	MAZ	chr16:71916312-71918705	GM12878	blood:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71917463-71917472 chr16:71918283-71918293
42	SIN3A	chr16:71916997-71918798	H1-hESC	embryonic stem cell:	n/a	chr16:71918439-71918447 chr16:71917690-71917703 chr16:71918327-71918338 chr16:71917886-71917899
43	ZBTB7A	chr16:71917255-71918740	K562	blood:	n/a	chr16:71917750-71917759
44	SIN3AK20	chr16:71917859-71918732	SK-N-SH	brain:	n/a	n/a
45	BHLHE40	chr16:71917764-71918698	GM12878	blood:	n/a	n/a
46	MAX	chr16:71917910-71918719	NB4	blood:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918283-71918293
47	TCF12	chr16:71918144-71918745	A549	lung:	n/a	n/a
48	RUNX3	chr16:71917922-71918756	GM12878	blood:	n/a	chr16:71918419-71918434 chr16:71918412-71918429
49	ZNF384	chr16:71918432-71918845	GM12878	blood:	n/a	n/a
50	HCFC1	chr16:71917713-71918715	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71660779..71663588-chr16:71917487..71919954,2	MCF-7	breast:
2	chr16:71912441..71914997-chr16:71916463..71919857,4	K562	blood:
3	chr16:71840534..71843948-chr16:71913805..71919381,8	MCF-7	breast:
4	chr16:71913427..71915836-chr16:71916588..71919509,4	K562	blood:
5	chr16:71756102..71758936-chr16:71915033..71919382,3	MCF-7	breast:
6	chr16:71918380..71919147-chr16:71928746..71929303,2	K562	blood:
7	chr16:71917025..71919213-chr20:46129079..46131183,2	MCF-7	breast:
8	chr16:71756251..71759040-chr16:71918074..71919809,2	K562	blood:
9	chr16:71840886..71843601-chr16:71915608..71919137,4	MCF-7	breast:
10	chr16:71841119..71844188-chr16:71916755..71919955,4	K562	blood:
11	chr16:71916398..71918691-chr16:71923967..71926523,2	K562	blood:
12	chr16:71878397..71880298-chr16:71917810..71919339,2	MCF-7	breast:
13	chr16:71916483..71919796-chr16:71926616..71929598,5	K562	blood:
14	chr16:71879516..71883331-chr16:71913609..71918904,8	MCF-7	breast:
15	chr16:71916766..71921844-chr16:71926616..71932994,12	K562	blood:

Variant related genes	Relation type
ENSG00000261765	TF binding region
ZNF821	TF binding region
IST1	TF binding region
ENSG00000040199	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000182149	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10500567	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10852507	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11639843	0.86[ASN][1000 genomes]
rs11640135	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11644740	0.86[ASN][1000 genomes]
rs11865456	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149307	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149325	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149917	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12445564	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12445641	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12448086	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12921279	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12921459	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12927691	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12934512	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13330178	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17357420	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17358402	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28667298	0.86[ASN][1000 genomes]
rs2878494	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3088285	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34029919	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34101687	0.86[ASN][1000 genomes]
rs34664834	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35028754	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35209006	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35404791	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35535529	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs35595148	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36182990	0.86[ASN][1000 genomes]
rs3751820	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4528577	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71384781	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71384782	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71386939	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71386940	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71386942	0.86[ASN][1000 genomes]
rs7185027	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7188591	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7191848	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7195988	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7197486	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7198834	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7200447	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73586164	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8046044	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8049508	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8050058	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8052358	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8053906	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8063657	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9940234	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS 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 miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3328027	chr16:71916676-71919424	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71914800-71918800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr16:71916200-71919000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr16:71916400-71918800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:71916400-71919000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr16:71916600-71918800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:71916600-71918800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:71916600-71918800	Active TSS	Esophagus	oesophagus
8	chr16:71916600-71918800	Active TSS	HSMMtube	muscle
9	chr16:71916800-71918800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:71916800-71918800	Active TSS	Aorta	Aorta
11	chr16:71916800-71918800	Active TSS	Right Atrium	heart
12	chr16:71916800-71918800	Active TSS	Right Ventricle	heart
13	chr16:71917000-71918800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr16:71917000-71918800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr16:71917000-71918800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr16:71917000-71918800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr16:71917000-71918800	Active TSS	Ovary	ovary
18	chr16:71917000-71919000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr16:71917000-71919200	Active TSS	Brain Anterior Caudate	brain
20	chr16:71917000-71919200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr16:71917200-71918800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr16:71917200-71918800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr16:71917200-71918800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:71917200-71918800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr16:71917200-71918800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr16:71917200-71918800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:71917200-71918800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:71917200-71918800	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr16:71917200-71918800	Active TSS	Fetal Lung	lung
30	chr16:71917200-71918800	Active TSS	NHDF-Ad	bronchial
31	chr16:71917200-71919000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:71917200-71919200	Active TSS	Brain Angular Gyrus	brain
33	chr16:71917200-71919200	Active TSS	Brain Germinal Matrix	brain
34	chr16:71917200-71919200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:71917200-71919200	Active TSS	Fetal Kidney	kidney
36	chr16:71917200-71919400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr16:71917400-71918800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:71917400-71918800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:71917400-71918800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:71917400-71918800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr16:71917400-71918800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr16:71917400-71918800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:71917400-71918800	Active TSS	Brain Hippocampus Middle	brain
44	chr16:71917400-71918800	Active TSS	Colon Smooth Muscle	Colon
45	chr16:71917400-71918800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr16:71917400-71918800	Active TSS	Fetal Brain Female	brain
47	chr16:71917400-71918800	Active TSS	Left Ventricle	heart
48	chr16:71917400-71918800	Active TSS	Psoas Muscle	Psoas
49	chr16:71917400-71918800	Flanking Active TSS	Dnd41	blood
50	chr16:71917400-71918800	Active TSS	Hela-S3	cervix

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