Variant report

Variant	rs4757499
Chromosome Location	chr11:17193162-17193163
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	JUN	chr11:17192789-17193271	Hela-S3	cervix:	n/a	n/a
2	TEAD4	chr11:17192893-17193368	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr11:17192916-17193304	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr11:17192885-17193346	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr11:17192881-17193360	A549	lung:	n/a	chr11:17193126-17193137 chr11:17193126-17193137 chr11:17193126-17193139
6	TEAD4	chr11:17192867-17193371	A549	lung:	n/a	n/a
7	CEBPB	chr11:17192948-17193324	IMR90	lung:	n/a	chr11:17193126-17193137 chr11:17193126-17193137 chr11:17193126-17193139
8	JUN	chr11:17192922-17193235	HUVEC	blood vessel:	n/a	n/a
9	CEBPB	chr11:17192984-17193350	ECC-1	luminal epithelium:	n/a	chr11:17193126-17193137 chr11:17193126-17193137 chr11:17193126-17193139
10	TEAD4	chr11:17192861-17193385	A549	lung:	n/a	n/a
11	CEBPB	chr11:17192994-17193224	A549	lung:	n/a	chr11:17193126-17193137 chr11:17193126-17193137 chr11:17193126-17193139
12	RFX5	chr11:17192833-17193278	Hela-S3	cervix:	n/a	n/a
13	TEAD4	chr11:17192804-17193455	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr11:17192929-17193332	Hela-S3	cervix:	n/a	chr11:17193126-17193137 chr11:17193126-17193137 chr11:17193126-17193139
15	CEBPB	chr11:17192979-17193298	ECC-1	luminal epithelium:	n/a	chr11:17193126-17193137 chr11:17193126-17193137 chr11:17193126-17193139
16	RCOR1	chr11:17192970-17193266	Hela-S3	cervix:	n/a	n/a
17	EP300	chr11:17192980-17193331	Hela-S3	cervix:	n/a	chr11:17193085-17193094 chr11:17193124-17193138
18	CEBPB	chr11:17192974-17193257	H1-hESC	embryonic stem cell:	n/a	chr11:17193126-17193137 chr11:17193126-17193137 chr11:17193126-17193139
19	TEAD4	chr11:17192738-17193434	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17191444..17193638-chr17:59471300..59473152,2	MCF-7	breast:

Variant related genes	Relation type
PIK3C2A	TF binding region
ENSG00000267280	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10430892	1.00[EUR][1000 genomes]
rs10741723	0.99[ASN][1000 genomes]
rs10832730	0.86[ASN][1000 genomes]
rs11024142	0.86[ASN][1000 genomes]
rs11024145	0.86[ASN][1000 genomes]
rs11024146	0.87[ASN][1000 genomes]
rs11024147	0.87[ASN][1000 genomes]
rs11024150	0.89[ASN][1000 genomes]
rs11024152	0.89[ASN][1000 genomes]
rs11024153	0.89[ASN][1000 genomes]
rs11024185	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024186	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024190	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11024197	1.00[EUR][1000 genomes]
rs11024199	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11024201	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024226	1.00[EUR][1000 genomes]
rs11024243	1.00[EUR][1000 genomes]
rs11024245	1.00[EUR][1000 genomes]
rs11024246	1.00[EUR][1000 genomes]
rs12225195	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576590	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17847728	0.88[ASN][1000 genomes]
rs2302511	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61555995	1.00[EUR][1000 genomes]
rs6416174	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6486349	0.86[ASN][1000 genomes]
rs6486350	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6486353	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67771121	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7113011	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7122571	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7123825	0.86[ASN][1000 genomes]
rs7127204	0.95[ASN][1000 genomes]
rs72632986	0.87[ASN][1000 genomes]
rs72632987	0.86[ASN][1000 genomes]
rs72632988	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72632989	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72632990	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7929047	0.92[ASN][1000 genomes]
rs7934596	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7941165	0.88[ASN][1000 genomes]
rs7945756	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv7691	chr11:17151593-17196894	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
2	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
3	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:17167400-17204400	Weak transcription	Thymus	Thymus
6	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
8	chr11:17168200-17193800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
10	chr11:17178800-17195000	Weak transcription	Brain Substantia Nigra	brain
11	chr11:17181400-17194400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:17182000-17196800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:17182200-17196400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:17182200-17196800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:17184400-17193400	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
17	chr11:17185200-17195400	Weak transcription	Gastric	stomach
18	chr11:17185800-17193400	Weak transcription	Ovary	ovary
19	chr11:17185800-17207400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:17185800-17212800	Weak transcription	Pancreas	Pancrea
21	chr11:17186600-17193200	Weak transcription	Placenta	Placenta
22	chr11:17187000-17194800	Weak transcription	Brain Anterior Caudate	brain
23	chr11:17187000-17195000	Weak transcription	Fetal Heart	heart
24	chr11:17187000-17198000	Weak transcription	HMEC	breast
25	chr11:17187000-17212600	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:17187000-17228000	Weak transcription	Colonic Mucosa	Colon
27	chr11:17187200-17193200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:17187200-17194000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:17187200-17195400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:17187200-17207200	Weak transcription	K562	blood
31	chr11:17187200-17210000	Weak transcription	Psoas Muscle	Psoas
32	chr11:17187200-17210000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:17187200-17212600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:17187200-17214000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:17187200-17214200	Weak transcription	Right Ventricle	heart
36	chr11:17187200-17226800	Weak transcription	Small Intestine	intestine
37	chr11:17188600-17193200	Weak transcription	NHEK	skin
38	chr11:17188800-17193800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:17189000-17193200	Weak transcription	Right Atrium	heart
40	chr11:17189200-17193200	Weak transcription	Lung	lung
41	chr11:17189200-17197600	Weak transcription	Fetal Intestine Small	intestine
42	chr11:17189400-17203200	Weak transcription	Fetal Stomach	stomach
43	chr11:17190400-17197600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:17190800-17195400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:17191000-17193400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:17191000-17194600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:17191000-17199000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:17191000-17203800	Weak transcription	Liver	Liver
49	chr11:17191000-17204000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr11:17191000-17207600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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