Variant report

Variant	rs62341096
Chromosome Location	chr4:174094196-174094197
allele	G/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	chr4:174088782-174094458	PANC-1	pancreas:	n/a	n/a
2	CUX1	chr4:174094159-174094271	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:173960802..173963006-chr4:174092691..174094595,2	MCF-7	breast:
2	chr4:174088223..174092682-chr4:174092972..174099857,11	MCF-7	breast:
3	chr4:174091292..174097320-chr4:174098048..174101316,8	K562	blood:
4	chr4:174026266..174028030-chr4:174092674..174094208,2	K562	blood:

Variant related genes	Relation type
ENSG00000245213	TF binding region
ENSG00000109586	Chromatin interaction
ENSG00000245213	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10520255	0.83[EUR][1000 genomes]
rs10520256	0.83[EUR][1000 genomes]
rs11942280	0.83[EUR][1000 genomes]
rs13102038	0.83[EUR][1000 genomes]
rs13116270	0.83[EUR][1000 genomes]
rs13117810	0.87[EUR][1000 genomes]
rs13120215	0.87[EUR][1000 genomes]
rs13123359	0.92[EUR][1000 genomes]
rs13123399	0.82[EUR][1000 genomes]
rs13142524	0.83[EUR][1000 genomes]
rs13150231	0.86[EUR][1000 genomes]
rs13150320	0.82[EUR][1000 genomes]
rs13151627	0.83[EUR][1000 genomes]
rs17059207	0.83[EUR][1000 genomes]
rs17059234	0.82[EUR][1000 genomes]
rs17059235	0.82[EUR][1000 genomes]
rs28361970	0.83[EUR][1000 genomes]
rs34285915	0.88[EUR][1000 genomes]
rs34718403	0.87[EUR][1000 genomes]
rs35576170	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35679682	0.87[EUR][1000 genomes]
rs35730812	0.91[EUR][1000 genomes]
rs36050097	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4695827	0.82[EUR][1000 genomes]
rs62342296	0.82[EUR][1000 genomes]
rs62342297	0.82[EUR][1000 genomes]
rs6822924	0.83[EUR][1000 genomes]
rs6835517	0.82[EUR][1000 genomes]
rs722826	0.92[EUR][1000 genomes]
rs722827	0.92[EUR][1000 genomes]
rs7661977	0.87[EUR][1000 genomes]
rs7667345	0.91[EUR][1000 genomes]
rs7668473	0.81[EUR][1000 genomes]
rs7673747	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793960	chr4:174090004-174102397	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1801469	chr4:174090004-174102397	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv1799519	chr4:174090004-174173743	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1823585	chr4:174090209-174107537	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174091600-174094200	Enhancers	Primary B cells from peripheral blood	blood
2	chr4:174091600-174094600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:174091600-174095000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:174091600-174113600	Weak transcription	Esophagus	oesophagus
5	chr4:174091800-174094600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:174091800-174104000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr4:174092000-174094400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:174092000-174095000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:174092000-174096800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:174092000-174098600	Weak transcription	Brain Angular Gyrus	brain
11	chr4:174092200-174096200	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:174092200-174096400	Enhancers	Stomach Mucosa	stomach
13	chr4:174092200-174098800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:174092200-174099000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:174092200-174099000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr4:174092400-174100400	Weak transcription	Hela-S3	cervix
17	chr4:174092600-174094800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:174092600-174095000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:174092600-174095000	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:174092600-174095000	Weak transcription	Fetal Kidney	kidney
21	chr4:174092600-174095400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:174092600-174096800	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:174092600-174097800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:174092600-174099200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:174092600-174099200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:174092600-174102400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:174092800-174094800	Weak transcription	HUVEC	blood vessel
28	chr4:174092800-174095000	Weak transcription	Primary T cells from cord blood	blood
29	chr4:174092800-174095000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:174092800-174095000	Weak transcription	Fetal Intestine Small	intestine
31	chr4:174092800-174095000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:174092800-174095000	Enhancers	K562	blood
33	chr4:174092800-174095200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:174092800-174095400	Weak transcription	Fetal Lung	lung
35	chr4:174092800-174095600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:174092800-174096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:174092800-174096000	Enhancers	A549	lung
38	chr4:174092800-174096200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:174092800-174098600	Enhancers	Fetal Thymus	thymus
40	chr4:174092800-174099200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:174092800-174099400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:174092800-174100400	Weak transcription	NHEK	skin
43	chr4:174092800-174101000	Weak transcription	HSMM	muscle
44	chr4:174092800-174103200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:174092800-174103600	Weak transcription	Aorta	Aorta
46	chr4:174092800-174106000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:174092800-174109000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:174093000-174094600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:174093000-174096800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr4:174093000-174102200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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