Variant report

Variant	rs61881311
Chromosome Location	chr11:17035718-17035719
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	chr11:17035297-17035761	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr11:17035457-17035768	ECC-1	luminal epithelium:	n/a	n/a
3	JUND	chr11:17035625-17035759	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF263	chr11:17034630-17035742	HEK293-T-REx	kidney:	n/a	n/a
5	ZBTB7A	chr11:17035064-17035796	ECC-1	luminal epithelium:	n/a	n/a
6	SIN3A	chr11:17034401-17035824	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:17034751-17035725	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:17034547-17036476	HepG2	liver:	n/a	n/a
9	MAX	chr11:17035697-17036293	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr11:17035220-17035877	MCF-7	breast:	n/a	chr11:17035489-17035499
11	USF1	chr11:17035444-17035768	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:17035511-17035766	ECC-1	luminal epithelium:	n/a	n/a
13	MAZ	chr11:17034407-17036438	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989
14	POLR2A	chr11:17035638-17035795	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr11:17034354-17035789	A549	lung:	n/a	n/a
16	TAF1	chr11:17034542-17035806	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:17034447-17036458	MCF-7	breast:	n/a	n/a
18	ZBTB7A	chr11:17035064-17036084	ECC-1	luminal epithelium:	n/a	n/a
19	USF1	chr11:17035498-17035779	H1-hESC	embryonic stem cell:	n/a	n/a
20	RCOR1	chr11:17035536-17035727	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:17034554-17035781	A549	lung:	n/a	n/a
22	HA-E2F1	chr11:17034464-17035763	MCF-7	breast:	n/a	chr11:17035370-17035377
23	SIN3AK20	chr11:17034093-17036016	MCF-7	breast:	n/a	n/a
24	TAF1	chr11:17035175-17035736	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:17034441-17036399	MCF-7	breast:	n/a	n/a
26	POLR2A	chr11:17034469-17036381	A549	lung:	n/a	n/a
27	POLR2A	chr11:17034527-17036242	MCF-7	breast:	n/a	n/a
28	POLR2A	chr11:17035664-17036308	ProgFib	skin:	n/a	n/a
29	YY1	chr11:17035699-17036138	ECC-1	luminal epithelium:	n/a	chr11:17036049-17036063 chr11:17035953-17035967 chr11:17036052-17036061 chr11:17036052-17036066
30	USF2	chr11:17035536-17035834	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:17034462-17036864	A549	lung:	n/a	n/a
32	MAX	chr11:17033937-17037316	A549	lung:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989
33	POLR2A	chr11:17034371-17037065	HepG2	liver:	n/a	n/a
34	POLR2A	chr11:17035497-17035801	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr11:17035645-17035774	A549	lung:	n/a	n/a
36	ZEB1	chr11:17035432-17035739	GM12878	blood:	n/a	n/a
37	MYC	chr11:17035333-17035796	MCF-7	breast:	n/a	chr11:17035489-17035499
38	YY1	chr11:17035605-17036166	ECC-1	luminal epithelium:	n/a	chr11:17036049-17036063 chr11:17035953-17035967 chr11:17036052-17036061 chr11:17036052-17036066
39	YY1	chr11:17034466-17036495	HepG2	liver:	n/a	chr11:17035432-17035446 chr11:17036186-17036195 chr11:17036049-17036063 chr11:17035953-17035967 chr11:17035458-17035472 chr11:17036155-17036169 chr11:17035406-17035415 chr11:17036052-17036061 chr11:17036052-17036066
40	POLR2A	chr11:17035411-17036633	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:17034494-17036573	HepG2	liver:	n/a	n/a
42	HEY1	chr11:17034480-17035787	HepG2	liver:	n/a	chr11:17035459-17035474 chr11:17035506-17035521 chr11:17035404-17035419

No.	Distal block	Cell Line	Cell type
1	chr11:16994632..16996478-chr11:17034698..17036230,2	MCF-7	breast:
2	chr11:17034631..17037564-chr11:17097951..17099758,2	MCF-7	breast:
3	chr11:16995340..16999228-chr11:17033547..17036418,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUCB2-7	chr11:17035545-17035914	NONHSAT018197

Variant related genes	Relation type
PLEKHA7	TF binding region
ENSG00000244398	Chromatin interaction
ENSG00000110700	Chromatin interaction
ENSG00000251928	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10734250	0.91[EUR][1000 genomes]
rs10741719	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741720	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741721	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741722	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766370	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766371	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766372	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832713	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10832715	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10832716	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832717	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832718	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832719	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10832720	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832721	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024111	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605426	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288625	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365483	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418132	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12808675	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1468489	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34437677	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34502475	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34819854	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35115039	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4351794	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562807	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756881	0.82[EUR][1000 genomes]
rs4756882	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4756883	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757467	0.82[EUR][1000 genomes]
rs4757479	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4757482	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4757483	0.91[EUR][1000 genomes]
rs4757484	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4757485	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757486	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757487	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757488	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757489	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757490	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757491	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757492	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757493	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486332	0.87[EUR][1000 genomes]
rs6486335	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6486336	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486337	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486339	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486340	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6486341	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486342	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486343	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486344	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7101679	0.87[EUR][1000 genomes]
rs7117262	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484746	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7481059	0.87[EUR][1000 genomes]
rs7926143	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7928955	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7929923	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7930890	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7931025	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7933984	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937479	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7940499	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7947297	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947897	0.84[EUR][1000 genomes]
rs992698	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv825771	chr11:17027229-17048360	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	esv3375438	chr11:17034401-17037549	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
6	esv3418566	chr11:17035326-17037224	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17034200-17035800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:17034200-17036400	Active TSS	Brain Substantia Nigra	brain
3	chr11:17034200-17036800	Active TSS	Brain Anterior Caudate	brain
4	chr11:17034400-17036400	Active TSS	Osteobl	bone
5	chr11:17034400-17036600	Active TSS	Pancreas	Pancrea
6	chr11:17034400-17036800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:17034400-17037000	Active TSS	Esophagus	oesophagus
8	chr11:17034400-17037000	Active TSS	Fetal Brain Female	brain
9	chr11:17034600-17035800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:17034600-17035800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:17034600-17036400	Active TSS	Liver	Liver
12	chr11:17034600-17036400	Active TSS	Colon Smooth Muscle	Colon
13	chr11:17034600-17036400	Active TSS	Gastric	stomach
14	chr11:17034600-17036400	Active TSS	Psoas Muscle	Psoas
15	chr11:17034600-17036600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:17034600-17036600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:17034600-17036600	Active TSS	Aorta	Aorta
18	chr11:17034600-17036600	Active TSS	Brain Cingulate Gyrus	brain
19	chr11:17034600-17036600	Active TSS	HSMMtube	muscle
20	chr11:17034600-17037000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr11:17034600-17037000	Active TSS	Brain Hippocampus Middle	brain
22	chr11:17034600-17037000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:17034600-17037000	Active TSS	Right Atrium	heart
24	chr11:17034600-17037200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:17034600-17037200	Active TSS	Right Ventricle	heart
26	chr11:17034600-17037400	Active TSS	A549	lung
27	chr11:17034800-17035800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:17034800-17035800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr11:17034800-17035800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:17034800-17035800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
31	chr11:17034800-17036400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:17034800-17036400	Active TSS	Brain Angular Gyrus	brain
33	chr11:17034800-17036400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr11:17034800-17036400	Active TSS	Stomach Smooth Muscle	stomach
35	chr11:17034800-17036600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr11:17034800-17036600	Active TSS	Left Ventricle	heart
37	chr11:17034800-17036800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:17034800-17036800	Active TSS	Hela-S3	cervix
39	chr11:17034800-17036800	Bivalent/Poised TSS	HepG2	liver
40	chr11:17034800-17037000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr11:17034800-17037000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr11:17034800-17037000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:17034800-17037200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr11:17034800-17037200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr11:17034800-17037400	Active TSS	Small Intestine	intestine
46	chr11:17035000-17036000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
47	chr11:17035000-17036400	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr11:17035000-17036400	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr11:17035000-17036600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:17035000-17036600	Active TSS	Ovary	ovary

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