Variant report

Variant	rs34716494
Chromosome Location	chr11:9287401-9287402
allele	A/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	MXI1	chr11:9285395-9287436	IMR90	lung:	n/a	n/a
2	ZNF143	chr11:9287274-9287675	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr11:9286679-9287403	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr11:9286251-9287711	H1-hESC	embryonic stem cell:	n/a	n/a
5	TCF12	chr11:9286693-9287431	A549	lung:	n/a	n/a
6	JUN	chr11:9286728-9287904	K562	blood:	n/a	n/a
7	TAF1	chr11:9286703-9287756	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:9286759-9287944	HepG2	liver:	n/a	n/a
9	JUND	chr11:9286481-9287426	K562	blood:	n/a	n/a
10	POLR2A	chr11:9285906-9287475	K562	blood:	n/a	n/a
11	NR2F2	chr11:9286852-9287523	K562	blood:	n/a	n/a
12	MAX	chr11:9286119-9287680	HepG2	liver:	n/a	chr11:9286966-9286976
13	CREB1	chr11:9286668-9288026	HepG2	liver:	n/a	chr11:9286990-9287003
14	CHD1	chr11:9287247-9287474	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:9286607-9287429	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr11:9286086-9287708	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:9286474-9288251	HepG2	liver:	n/a	n/a
18	MAX	chr11:9285748-9287422	A549	lung:	n/a	chr11:9286966-9286976
19	ATF2	chr11:9286774-9287696	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:9286720-9287950	HepG2	liver:	n/a	n/a
21	MAFK	chr11:9287036-9287605	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:9285726-9287413	HUVEC	blood vessel:	n/a	n/a
23	BHLHE40	chr11:9286805-9287431	HepG2	liver:	n/a	chr11:9286842-9286858
24	ATF2	chr11:9286786-9287499	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:9286098-9287479	H1-neurons	neurons:	n/a	n/a
26	REST	chr11:9285729-9287677	H1-neurons	neurons:	n/a	chr11:9286891-9286909 chr11:9287141-9287154
27	MXI1	chr11:9286458-9287902	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:9287400-9287893	HepG2	liver:	n/a	n/a
29	MYBL2	chr11:9286881-9287412	HepG2	liver:	n/a	n/a
30	ZBTB7A	chr11:9286078-9287478	ECC-1	luminal epithelium:	n/a	n/a
31	MXI1	chr11:9285405-9287776	SK-N-SH	brain:	n/a	n/a
32	MAZ	chr11:9285353-9287739	IMR90	lung:	n/a	chr11:9286966-9286976
33	JUND	chr11:9286535-9287548	SK-N-SH	brain:	n/a	n/a
34	RCOR1	chr11:9286728-9287843	HepG2	liver:	n/a	n/a
35	MYC	chr11:9286721-9287408	A549	lung:	n/a	chr11:9286966-9286976
36	CBX3	chr11:9286740-9287406	K562	blood:	n/a	n/a
37	TBL1XR1	chr11:9286981-9287438	K562	blood:	n/a	n/a
38	POLR2A	chr11:9285695-9287976	H1-hESC	embryonic stem cell:	n/a	n/a
39	TBP	chr11:9286450-9287598	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr11:9286220-9287670	H1-hESC	embryonic stem cell:	n/a	chr11:9286966-9286976
41	SIN3A	chr11:9285662-9287584	H1-hESC	embryonic stem cell:	n/a	chr11:9286908-9286921
42	POLR2A	chr11:9285837-9287444	H1-neurons	neurons:	n/a	n/a
43	MAX	chr11:9287023-9287455	H1-hESC	embryonic stem cell:	n/a	n/a
44	USF2	chr11:9287267-9287490	H1-hESC	embryonic stem cell:	n/a	n/a
45	HEY1	chr11:9286556-9288024	HepG2	liver:	n/a	chr11:9286637-9286652 chr11:9286841-9286856 chr11:9287038-9287053
46	POLR2A	chr11:9286417-9287478	PFSK-1	brain:	n/a	n/a
47	MTA3	chr11:9286952-9287459	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9284942..9289829-chr11:9481407..9484206,5	MCF-7	breast:
2	chr11:9225994..9228679-chr11:9287025..9288603,2	MCF-7	breast:
3	chr11:9283945..9288774-chr11:9332278..9339081,12	K562	blood:
4	chr11:9285208..9288330-chr11:9480610..9483327,3	K562	blood:
5	chr11:9287022..9288899-chr11:9296705..9299539,3	MCF-7	breast:
6	chr11:9285399..9287969-chr11:9480073..9484247,5	MCF-7	breast:
7	chr11:9284656..9288251-chr11:9406150..9408599,6	K562	blood:

Variant related genes	Relation type
DENND5A	TF binding region
ENSG00000205339	Chromatin interaction
ENSG00000254884	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000184014	Chromatin interaction
ENSG00000166471	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10743104	0.86[ASN][1000 genomes]
rs10770002	0.97[ASN][1000 genomes]
rs10770003	0.97[ASN][1000 genomes]
rs10770004	0.97[ASN][1000 genomes]
rs10770006	0.95[ASN][1000 genomes]
rs10770008	0.95[ASN][1000 genomes]
rs10770009	0.95[ASN][1000 genomes]
rs10770010	0.95[ASN][1000 genomes]
rs10770013	0.85[ASN][1000 genomes]
rs10840196	0.97[ASN][1000 genomes]
rs10840199	0.95[ASN][1000 genomes]
rs10840200	0.95[ASN][1000 genomes]
rs10840204	0.83[ASN][1000 genomes]
rs10840205	0.83[ASN][1000 genomes]
rs10840207	0.81[ASN][1000 genomes]
rs11042227	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11042245	0.84[ASN][1000 genomes]
rs11042252	0.92[ASN][1000 genomes]
rs11042256	0.95[ASN][1000 genomes]
rs11042262	0.95[ASN][1000 genomes]
rs11042264	0.95[ASN][1000 genomes]
rs11042265	0.95[ASN][1000 genomes]
rs11042266	0.93[ASN][1000 genomes]
rs11042267	0.94[ASN][1000 genomes]
rs11042269	0.95[ASN][1000 genomes]
rs11042274	0.85[ASN][1000 genomes]
rs11500788	0.85[ASN][1000 genomes]
rs11602591	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11608172	0.86[AMR][1000 genomes]
rs12289113	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12295767	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12296016	0.89[AMR][1000 genomes]
rs12420463	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12574882	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12577661	0.84[AMR][1000 genomes]
rs12796666	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12801814	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2133216	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34446443	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34494849	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34729888	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35381016	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35686957	0.95[ASN][1000 genomes]
rs35757766	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35955530	0.86[AMR][1000 genomes]
rs4325312	0.82[ASN][1000 genomes]
rs4343026	0.94[ASN][1000 genomes]
rs4369406	0.95[ASN][1000 genomes]
rs4447178	0.94[ASN][1000 genomes]
rs4570580	0.81[ASN][1000 genomes]
rs4601779	0.93[ASN][1000 genomes]
rs4641476	0.80[ASN][1000 genomes]
rs5014247	0.97[ASN][1000 genomes]
rs61875672	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61875673	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61877814	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61877916	0.96[ASN][1000 genomes]
rs7101432	0.95[ASN][1000 genomes]
rs7104221	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7116459	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7121013	0.83[ASN][1000 genomes]
rs7123342	0.95[ASN][1000 genomes]
rs7124178	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71476818	0.97[ASN][1000 genomes]
rs7358313	0.94[ASN][1000 genomes]
rs7358392	0.87[ASN][1000 genomes]
rs7924664	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7951700	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7952508	0.91[ASN][1000 genomes]
rs952374	0.86[AMR][1000 genomes]
rs9888193	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
7	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9284400-9287600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:9284600-9287600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:9284800-9287600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:9284800-9287600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:9284800-9287600	Active TSS	NHDF-Ad	bronchial
6	chr11:9284800-9287800	Active TSS	Brain Anterior Caudate	brain
7	chr11:9285400-9287600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:9285400-9287600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr11:9285400-9287600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr11:9285400-9287600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:9285400-9287600	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:9285400-9287600	Active TSS	Primary T cells from cord blood	blood
13	chr11:9285400-9287600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr11:9285400-9287600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr11:9285400-9287600	Active TSS	Ovary	ovary
16	chr11:9285400-9287800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:9285600-9287600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:9285600-9287600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:9285600-9287600	Active TSS	Rectal Smooth Muscle	rectum
20	chr11:9285800-9287800	Active TSS	Pancreas	Pancrea
21	chr11:9286200-9287600	Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr11:9287000-9287600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:9287000-9287600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr11:9287000-9287600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:9287000-9287600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:9287000-9287600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:9287000-9287600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr11:9287000-9287600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:9287000-9287600	Flanking Active TSS	Liver	Liver
30	chr11:9287000-9287600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:9287000-9287600	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr11:9287000-9287600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr11:9287000-9287600	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr11:9287000-9287800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr11:9287000-9287800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:9287000-9287800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:9287000-9287800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr11:9287000-9287800	Flanking Active TSS	Hela-S3	cervix
39	chr11:9287200-9287600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:9287200-9287600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:9287200-9287600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr11:9287200-9287600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:9287200-9287600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:9287200-9287600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:9287200-9287600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:9287200-9287600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr11:9287200-9287600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:9287200-9287600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr11:9287200-9287600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:9287200-9287600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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