Variant report

Variant	rs34494849
Chromosome Location	chr11:9287030-9287031
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	POLR2A	chr11:9286742-9287280	HepG2	liver:	n/a	n/a
2	YY1	chr11:9286220-9287255	HepG2	liver:	n/a	chr11:9287013-9287024 chr11:9286842-9286853 chr11:9286839-9286848 chr11:9286842-9286851 chr11:9286862-9286876 chr11:9286870-9286879 chr11:9286945-9286959
3	BRCA1	chr11:9286859-9287108	Hela-S3	cervix:	n/a	n/a
4	HA-E2F1	chr11:9286263-9287101	Hela-S3	cervix:	n/a	chr11:9286375-9286384 chr11:9286474-9286481 chr11:9286949-9286958 chr11:9286839-9286848 chr11:9286843-9286853 chr11:9287012-9287021 chr11:9286470-9286482 chr11:9286474-9286481 chr11:9286943-9286952 chr11:9286474-9286481 chr11:9286468-9286477 chr11:9286968-9286977
5	RUNX3	chr11:9286768-9287277	GM12878	blood:	n/a	n/a
6	E2F4	chr11:9286822-9287166	MCF10A-Er-Src	breast:	n/a	chr11:9286949-9286958 chr11:9286839-9286848 chr11:9286843-9286853 chr11:9287012-9287021 chr11:9286943-9286952 chr11:9286968-9286977
7	POLR2A	chr11:9286678-9287182	K562	blood:	n/a	n/a
8	NRF1	chr11:9286865-9287079	HepG2	liver:	n/a	chr11:9286945-9286959 chr11:9286944-9286953 chr11:9286948-9286957 chr11:9286939-9286953 chr11:9286942-9286953 chr11:9286942-9286956 chr11:9286942-9286953 chr11:9286948-9286959 chr11:9286948-9286962
9	PAX5	chr11:9286750-9287111	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:9286643-9287110	GM12891	blood:	n/a	n/a
11	RAD21	chr11:9286798-9287156	IMR90	lung:	n/a	n/a
12	ZNF143	chr11:9286755-9287136	GM12878	blood:	n/a	chr11:9286957-9286975
13	TAF1	chr11:9286746-9287107	K562	blood:	n/a	n/a
14	SMC3	chr11:9286809-9287109	Hela-S3	cervix:	n/a	n/a
15	EP300	chr11:9286881-9287241	K562	blood:	n/a	chr11:9287040-9287056 chr11:9287015-9287024
16	ELF1	chr11:9286877-9287183	K562	blood:	n/a	chr11:9287015-9287027
17	POLR2A	chr11:9286771-9287030	GM12878	blood:	n/a	n/a
18	MXI1	chr11:9285395-9287436	IMR90	lung:	n/a	n/a
19	TAF1	chr11:9285826-9287213	K562	blood:	n/a	n/a
20	HEY1	chr11:9286727-9287218	K562	blood:	n/a	chr11:9286841-9286856 chr11:9287038-9287053
21	RCOR1	chr11:9285346-9287142	K562	blood:	n/a	n/a
22	E2F6	chr11:9286789-9287194	A549	lung:	n/a	chr11:9286949-9286958 chr11:9286839-9286848 chr11:9286843-9286853 chr11:9287012-9287021 chr11:9286943-9286952 chr11:9286968-9286977
23	TAF1	chr11:9286679-9287403	H1-neurons	neurons:	n/a	n/a
24	CEBPD	chr11:9286603-9287292	HepG2	liver:	n/a	n/a
25	SIN3AK20	chr11:9286763-9287145	PFSK-1	brain:	n/a	n/a
26	FOS	chr11:9286895-9287152	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr11:9286127-9287146	GM12878	blood:	n/a	n/a
28	MXI1	chr11:9286819-9287047	K562	blood:	n/a	n/a
29	MYC	chr11:9286797-9287125	HepG2	liver:	n/a	chr11:9286966-9286976
30	POLR2A	chr11:9286251-9287711	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:9286740-9287365	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr11:9286384-9287261	HepG2	liver:	n/a	n/a
33	TCF12	chr11:9286693-9287431	A549	lung:	n/a	n/a
34	JUN	chr11:9286728-9287904	K562	blood:	n/a	n/a
35	EGR1	chr11:9286736-9287191	H1-hESC	embryonic stem cell:	n/a	chr11:9286964-9286978 chr11:9286943-9286952 chr11:9287135-9287145 chr11:9286963-9286976 chr11:9286963-9286976 chr11:9286962-9286977 chr11:9286949-9286958 chr11:9286965-9286975
36	TAF1	chr11:9286765-9287211	ECC-1	luminal epithelium:	n/a	n/a
37	SIN3AK20	chr11:9285798-9287344	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr11:9286580-9287299	HepG2	liver:	n/a	n/a
39	E2F6	chr11:9286067-9287133	K562	blood:	n/a	chr11:9286375-9286384 chr11:9286474-9286481 chr11:9286949-9286958 chr11:9286839-9286848 chr11:9286843-9286853 chr11:9287012-9287021 chr11:9286470-9286482 chr11:9286474-9286481 chr11:9286943-9286952 chr11:9286474-9286481 chr11:9286468-9286477 chr11:9286968-9286977
40	TAF1	chr11:9286703-9287756	H1-hESC	embryonic stem cell:	n/a	n/a
41	REST	chr11:9286760-9287204	PANC-1	pancreas:	n/a	chr11:9286891-9286909 chr11:9287141-9287154
42	POLR2A	chr11:9286541-9287177	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:9285803-9287308	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr11:9286759-9287944	HepG2	liver:	n/a	n/a
45	POLR2A	chr11:9286730-9287135	A549	lung:	n/a	n/a
46	MYC	chr11:9286737-9287084	MCF10A-Er-Src	breast:	n/a	chr11:9286966-9286976
47	JUN	chr11:9286877-9287117	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr11:9286233-9287218	GM12892	blood:	n/a	n/a
49	EGR1	chr11:9286843-9287149	GM12878	blood:	n/a	chr11:9286964-9286978 chr11:9286943-9286952 chr11:9287135-9287145 chr11:9286963-9286976 chr11:9286963-9286976 chr11:9286962-9286977 chr11:9286949-9286958 chr11:9286965-9286975
50	POLR2A	chr11:9286754-9287157	SK-N-MC	brain:	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	chr11:9285385..9287169-chr11:9480610..9482898,2	K562	blood:
4	chr11:9283945..9288774-chr11:9332278..9339081,12	K562	blood:
5	chr11:9285208..9288330-chr11:9480610..9483327,3	K562	blood:
6	chr11:9287022..9288899-chr11:9296705..9299539,3	MCF-7	breast:
7	chr11:9285399..9287969-chr11:9480073..9484247,5	MCF-7	breast:
8	chr11:9284656..9288251-chr11:9406150..9408599,6	K562	blood:

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

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10743104	0.82[ASN][1000 genomes]
rs10770002	0.92[ASN][1000 genomes]
rs10770003	0.92[ASN][1000 genomes]
rs10770004	0.92[ASN][1000 genomes]
rs10770006	0.91[ASN][1000 genomes]
rs10770008	0.91[ASN][1000 genomes]
rs10770009	0.91[ASN][1000 genomes]
rs10770010	0.91[ASN][1000 genomes]
rs10770013	0.81[ASN][1000 genomes]
rs10840196	0.92[ASN][1000 genomes]
rs10840199	0.91[ASN][1000 genomes]
rs10840200	0.91[ASN][1000 genomes]
rs11042227	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11042245	0.83[ASN][1000 genomes]
rs11042252	0.90[ASN][1000 genomes]
rs11042256	0.91[ASN][1000 genomes]
rs11042262	0.91[ASN][1000 genomes]
rs11042264	0.91[ASN][1000 genomes]
rs11042265	0.91[ASN][1000 genomes]
rs11042266	0.89[ASN][1000 genomes]
rs11042267	0.90[ASN][1000 genomes]
rs11042269	0.91[ASN][1000 genomes]
rs11042274	0.81[ASN][1000 genomes]
rs11500788	0.81[ASN][1000 genomes]
rs11602591	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11608172	0.87[AMR][1000 genomes]
rs12289113	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12295767	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12296016	0.90[AMR][1000 genomes]
rs12420463	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12574882	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12577661	0.85[AMR][1000 genomes]
rs12796666	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12801814	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2133216	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34446443	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34716494	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34729888	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35381016	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35686957	0.91[ASN][1000 genomes]
rs35757766	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35955530	0.87[AMR][1000 genomes]
rs4343026	0.90[ASN][1000 genomes]
rs4369406	0.91[ASN][1000 genomes]
rs4447178	0.90[ASN][1000 genomes]
rs4601779	0.89[ASN][1000 genomes]
rs5014247	0.93[ASN][1000 genomes]
rs61875672	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61875673	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61877814	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61877916	0.94[ASN][1000 genomes]
rs7101432	0.91[ASN][1000 genomes]
rs7104221	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7116459	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7123342	0.91[ASN][1000 genomes]
rs7124178	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71476818	0.93[ASN][1000 genomes]
rs7358313	0.90[ASN][1000 genomes]
rs7358392	0.85[ASN][1000 genomes]
rs7924664	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7951700	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7952508	0.87[ASN][1000 genomes]
rs952374	0.87[AMR][1000 genomes]
rs9888193	0.92[AMR][1000 genomes];0.83[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:127 , 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	chr11:9284800-9287200	Active TSS	Osteobl	bone
4	chr11:9284800-9287600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:9284800-9287600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:9284800-9287600	Active TSS	NHDF-Ad	bronchial
7	chr11:9284800-9287800	Active TSS	Brain Anterior Caudate	brain
8	chr11:9285000-9287200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:9285000-9287200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:9285000-9287200	Active TSS	Brain Hippocampus Middle	brain
11	chr11:9285000-9287200	Active TSS	Placenta	Placenta
12	chr11:9285000-9287200	Active TSS	Psoas Muscle	Psoas
13	chr11:9285000-9287200	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr11:9285000-9287400	Active TSS	Left Ventricle	heart
15	chr11:9285000-9287400	Active TSS	Right Atrium	heart
16	chr11:9285000-9287400	Active TSS	Right Ventricle	heart
17	chr11:9285400-9287200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:9285400-9287200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:9285400-9287200	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr11:9285400-9287200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:9285400-9287200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:9285400-9287200	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr11:9285400-9287200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr11:9285400-9287200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:9285400-9287200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:9285400-9287200	Active TSS	Brain Substantia Nigra	brain
27	chr11:9285400-9287200	Active TSS	Fetal Heart	heart
28	chr11:9285400-9287200	Active TSS	Fetal Kidney	kidney
29	chr11:9285400-9287200	Active TSS	Fetal Stomach	stomach
30	chr11:9285400-9287200	Bivalent/Poised TSS	HepG2	liver
31	chr11:9285400-9287200	Active TSS	K562	blood
32	chr11:9285400-9287200	Active TSS	NH-A	brain
33	chr11:9285400-9287200	Active TSS	NHLF	lung
34	chr11:9285400-9287400	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr11:9285400-9287400	Active TSS	Aorta	Aorta
36	chr11:9285400-9287400	Active TSS	Brain Cingulate Gyrus	brain
37	chr11:9285400-9287400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:9285400-9287400	Active TSS	A549	lung
39	chr11:9285400-9287600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr11:9285400-9287600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr11:9285400-9287600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr11:9285400-9287600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:9285400-9287600	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr11:9285400-9287600	Active TSS	Primary T cells from cord blood	blood
45	chr11:9285400-9287600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr11:9285400-9287600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr11:9285400-9287600	Active TSS	Ovary	ovary
48	chr11:9285400-9287800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:9285600-9287200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:9285600-9287200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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