Variant report

Variant	rs11234604
Chromosome Location	chr11:86013380-86013381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:436)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr11:86013048-86013785	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:86013033-86013762	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:86013038-86013705	HUVEC	blood vessel:	n/a	n/a
4	MYC	chr11:86013038-86013492	MCF10A-Er-Src	breast:	n/a	n/a
5	RFX5	chr11:86013016-86013481	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:86012959-86013845	GM12892	blood:	n/a	n/a
7	NR2F2	chr11:86013017-86013697	K562	blood:	n/a	chr11:86013311-86013326
8	POU2F2	chr11:86013000-86013725	GM12891	blood:	n/a	n/a
9	NR2C2	chr11:86013109-86013525	K562	blood:	n/a	chr11:86013311-86013326 chr11:86013313-86013326
10	NFIC	chr11:86012833-86013581	ECC-1	luminal epithelium:	n/a	chr11:86013171-86013199
11	UBTF	chr11:86013138-86013620	K562	blood:	n/a	n/a
12	YY1	chr11:86012995-86013875	ECC-1	luminal epithelium:	n/a	n/a
13	SMARCC2	chr11:86013016-86013906	Hela-S3	cervix:	n/a	chr11:86013204-86013213
14	POLR2A	chr11:86013109-86013864	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:86013040-86013788	A549	lung:	n/a	n/a
16	TBL1XR1	chr11:86013023-86013762	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:86013045-86014019	PANC-1	pancreas:	n/a	n/a
18	RUNX3	chr11:86012936-86013746	GM12878	blood:	n/a	n/a
19	MAX	chr11:86013039-86013842	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:86013033-86013669	A549	lung:	n/a	n/a
21	HEY1	chr11:86012913-86013654	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:86012981-86013875	ECC-1	luminal epithelium:	n/a	n/a
23	SRF	chr11:86013060-86013399	GM12878	blood:	n/a	n/a
24	CUX1	chr11:86013027-86014241	K562	blood:	n/a	n/a
25	HA-E2F1	chr11:86012979-86013768	MCF-7	breast:	n/a	chr11:86013592-86013601
26	TEAD4	chr11:86012971-86014354	K562	blood:	n/a	n/a
27	ELF1	chr11:86012857-86013582	GM12878	blood:	n/a	chr11:86013268-86013277 chr11:86013267-86013278 chr11:86013265-86013278
28	YY1	chr11:86012991-86013797	ECC-1	luminal epithelium:	n/a	n/a
29	TCF12	chr11:86012951-86013755	ECC-1	luminal epithelium:	n/a	n/a
30	SIN3AK20	chr11:86013062-86013570	HepG2	liver:	n/a	n/a
31	STAT5A	chr11:86012957-86013538	GM12878	blood:	n/a	chr11:86013163-86013172 chr11:86013157-86013177 chr11:86013162-86013171 chr11:86013163-86013171
32	TEAD4	chr11:86012881-86013516	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:86012875-86014435	PBDE	blood:	n/a	n/a
34	MAX	chr11:86012981-86013879	SK-N-SH	brain:	n/a	n/a
35	TAF1	chr11:86013015-86013755	H1-hESC	embryonic stem cell:	n/a	n/a
36	BCLAF1	chr11:86012947-86013619	K562	blood:	n/a	n/a
37	WRNIP1	chr11:86013002-86014128	GM12878	blood:	n/a	n/a
38	ATF3	chr11:86013073-86013503	K562	blood:	n/a	n/a
39	POLR2A	chr11:86012778-86014162	MCF10A-Er-Src	breast:	n/a	n/a
40	BCLAF1	chr11:86012942-86013616	GM12878	blood:	n/a	n/a
41	BCLAF1	chr11:86012955-86013709	GM12878	blood:	n/a	chr11:86013611-86013620
42	TAF1	chr11:86013072-86013738	K562	blood:	n/a	n/a
43	POLR2A	chr11:86012979-86013677	K562	blood:	n/a	n/a
44	POLR2A	chr11:86012838-86013815	Hela-S3	cervix:	n/a	n/a
45	SIN3AK20	chr11:86013044-86013519	H1-hESC	embryonic stem cell:	n/a	n/a
46	REST	chr11:86012993-86013525	HepG2	liver:	n/a	n/a
47	ETS1	chr11:86012927-86013575	GM12878	blood:	n/a	chr11:86013269-86013278 chr11:86013124-86013137 chr11:86013326-86013337 chr11:86013269-86013278 chr11:86013202-86013215 chr11:86013269-86013286 chr11:86013201-86013214
48	SIN3AK20	chr11:86013070-86013606	K562	blood:	n/a	n/a
49	YY1	chr11:86013060-86013609	HCT-116	colon:	n/a	n/a
50	TAF1	chr11:86012975-86013734	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:86013348-86013398	ProgFib	skin:	n/a
2	chr11:86013348-86013398	Caco-2	colon:	n/a
3	chr11:86013348-86013398	GM12878	blood:	n/a
4	chr11:86013348-86013398	AG09319	gingival:	n/a
5	chr11:86013348-86013398	NHDF-neo	bronchial:	n/a
6	chr11:86013348-86013398	PANC-1	pancreas:	n/a
7	chr11:86013348-86013398	Jurkat	blood:	n/a
8	chr11:86013348-86013398	NB4	blood:	n/a
9	chr11:86013348-86013398	RPTEC	kidney:	n/a
10	chr11:86013348-86013398	AG09309	skin:	n/a
11	chr11:86013348-86013398	AG10803	skin:	n/a
12	chr11:86013348-86013398	GM06990	blood:	n/a
13	chr11:86013348-86013398	NHBE	bronchial:	n/a
14	chr11:86013348-86013398	NT2-D1	testis:	n/a
15	chr11:86013348-86013398	K562	blood:	n/a
16	chr11:86013348-86013398	Hela-S3	cervix:	n/a
17	chr11:86013348-86013398	U87	brain:	n/a
18	chr11:86013348-86013398	HCM	heart:	n/a
19	chr11:86013348-86013398	HCPEpiC	choroid plexus:	n/a
20	chr11:86013348-86013398	MCF10A-Er-Src	breast:	n/a
21	chr11:86013348-86013398	Hepatocyte	liver:	n/a
22	chr11:86013348-86013398	LNCaP	prostate:	n/a
23	chr11:86013348-86013398	HNPCEpiC	eye:	n/a
24	chr11:86013348-86013398	HEEpiC	esophagus:	n/a
25	chr11:86013348-86013398	AG04449	skin:	fetal
26	chr11:86013348-86013398	HCT-116	colon:	n/a
27	chr11:86013348-86013398	AoSMC	blood vessel:	n/a
28	chr11:86013348-86013398	HIPEpiC	eye:	n/a
29	chr11:86013348-86013398	NH-A	brain:	n/a
30	chr11:86013348-86013398	GM12891	blood:	n/a
31	chr11:86013348-86013398	SKMC	muscle:	n/a
32	chr11:86013348-86013398	PFSK-1	brain:	n/a
33	chr11:86013348-86013398	SK-N-SH_RA	brain:	n/a
34	chr11:86013348-86013398	HEK293	kidney:	embryo
35	chr11:86013348-86013398	ovcar-3	ovarian:	n/a
36	chr11:86013348-86013398	T-47D	breast:	n/a
37	chr11:86013348-86013398	HRE	kidney:	n/a
38	chr11:86013348-86013398	HepG2	liver:	n/a
39	chr11:86013348-86013398	GM19239	blood:	n/a
40	chr11:86013348-86013398	SAEC	small airway:	n/a
41	chr11:86013348-86013398	A549	lung:	n/a
42	chr11:86013348-86013398	HL-60	blood:	n/a
43	chr11:86013348-86013398	AG04450	lung:	fetal
44	chr11:86013348-86013398	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:86013348-86013398	BE2_C	brain:	n/a
46	chr11:86013348-86013398	HRPEpiC	eye:	n/a
47	chr11:86013348-86013398	HRCEpiC	kidney:	n/a
48	chr11:86013348-86013398	PrEC	prostate:	n/a
49	chr11:86013348-86013398	HMEC	breast:	n/a
50	chr11:86013348-86013398	SK-N-MC	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85954509..85956884-chr11:86013356..86015049,2	K562	blood:
2	chr11:85374267..85376584-chr11:86013241..86015955,2	MCF-7	breast:
3	chr11:85955907..85958640-chr11:86011728..86014261,2	MCF-7	breast:
4	chr11:85978505..85980119-chr11:86012077..86014955,2	K562	blood:
5	chr11:86010873..86013514-chr11:86034864..86037459,2	K562	blood:

No data

Variant related genes	Relation type
C11orf73	TF binding region
C11orf73	CpG island
ENSG00000137504	Chromatin interaction
ENSG00000074266	Chromatin interaction
ENSG00000239856	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11820048	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11820262	1.00[ASN][1000 genomes]
rs11820306	1.00[ASN][1000 genomes]
rs11822824	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11823516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823646	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827831	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2167611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3758879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57381996	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58014336	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs58563351	0.85[EUR][1000 genomes]
rs60116315	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7106523	1.00[JPT][hapmap]
rs7108053	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7115858	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.82[MEX][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7116227	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7118858	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7129295	1.00[ASN][1000 genomes]
rs7924368	0.89[JPT][hapmap];0.94[YRI][hapmap]
rs7928648	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7931249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934320	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7936284	0.85[EUR][1000 genomes]
rs7951357	0.83[CHD][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap]
rs7951433	0.83[CHD][hapmap]
rs7951478	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv508643	chr11:85988577-86047719	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 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	chr11:86012200-86014800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:86012600-86013400	Active TSS	HepG2	liver
3	chr11:86012600-86013600	Active TSS	Primary B cells from cord blood	blood
4	chr11:86012600-86013800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr11:86012600-86013800	Active TSS	Brain Substantia Nigra	brain
6	chr11:86012600-86014000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:86012600-86014000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:86012600-86014000	Active TSS	Brain Angular Gyrus	brain
9	chr11:86012600-86014000	Active TSS	Colon Smooth Muscle	Colon
10	chr11:86012600-86014200	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr11:86012600-86014200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:86012600-86014200	Active TSS	NHLF	lung
13	chr11:86012600-86014400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:86012600-86014400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:86012600-86014400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:86012600-86014400	Active TSS	Brain Germinal Matrix	brain
17	chr11:86012600-86014400	Active TSS	Fetal Kidney	kidney
18	chr11:86012600-86014400	Active TSS	HMEC	breast
19	chr11:86012600-86014600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:86012600-86014600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr11:86012600-86014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:86012600-86014600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:86012600-86015200	Active TSS	K562	blood
24	chr11:86012800-86013600	Active TSS	Primary hematopoietic stem cells	blood
25	chr11:86012800-86013800	Active TSS	Adipose Nuclei	Adipose
26	chr11:86012800-86013800	Active TSS	Duodenum Mucosa	Duodenum
27	chr11:86012800-86014000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:86012800-86014000	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr11:86012800-86014000	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr11:86012800-86014000	Active TSS	Fetal Brain Male	brain
31	chr11:86012800-86014000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr11:86012800-86014000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr11:86012800-86014000	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr11:86012800-86014000	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr11:86012800-86014000	Active TSS	NH-A	brain
36	chr11:86012800-86014200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:86012800-86014200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr11:86012800-86014200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:86012800-86014200	Active TSS	Fetal Stomach	stomach
40	chr11:86012800-86014200	Active TSS	HSMM	muscle
41	chr11:86012800-86014200	Active TSS	HUVEC	blood vessel
42	chr11:86012800-86014400	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr11:86012800-86014400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:86012800-86014400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:86012800-86014400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:86012800-86014400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:86012800-86014400	Active TSS	Fetal Muscle Leg	muscle
48	chr11:86012800-86014400	Active TSS	Fetal Thymus	thymus
49	chr11:86012800-86014400	Active TSS	Thymus	Thymus
50	chr11:86012800-86014400	Active TSS	A549	lung

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