Variant report

Variant	rs170685
Chromosome Location	chr14:65204367-65204368
allele	C/G
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	chr14:65204207-65204921	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr14:65202897-65205567	ECC-1	luminal epithelium:	n/a	n/a
3	ZBTB7A	chr14:65202941-65205411	ECC-1	luminal epithelium:	n/a	chr14:65205006-65205014 chr14:65204275-65204283
4	ZBTB7A	chr14:65202967-65205326	ECC-1	luminal epithelium:	n/a	chr14:65205006-65205014 chr14:65204275-65204283

Variant related genes	Relation type
PLEKHG3	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10138034	0.96[EUR][1000 genomes]
rs11621159	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621379	0.89[EUR][1000 genomes]
rs11622754	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11625500	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628301	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883289	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884903	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12892852	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895353	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553163	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs170683	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229622	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229645	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs229648	1.00[ASN][1000 genomes]
rs229649	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229653	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229656	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34340219	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140781	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71420472	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732311	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943995	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
2	chr14:65189800-65207000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:65192400-65210400	Weak transcription	Osteobl	bone
4	chr14:65193200-65212200	Weak transcription	Fetal Heart	heart
5	chr14:65193400-65212400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:65193400-65212400	Weak transcription	HSMMtube	muscle
7	chr14:65193600-65209200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:65193600-65212800	Weak transcription	HUVEC	blood vessel
9	chr14:65193800-65212200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:65193800-65214400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr14:65194000-65209000	Weak transcription	Small Intestine	intestine
12	chr14:65194200-65204800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:65194200-65216200	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:65195000-65207200	Weak transcription	Primary B cells from cord blood	blood
15	chr14:65196000-65208200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:65196600-65212200	Weak transcription	NHLF	lung
17	chr14:65197200-65206000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:65198000-65214800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:65199000-65205200	Weak transcription	NH-A	brain
20	chr14:65199600-65207800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:65199800-65205200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:65199800-65205600	Weak transcription	Fetal Lung	lung
23	chr14:65200200-65204400	Genic enhancers	Brain Hippocampus Middle	brain
24	chr14:65200400-65205400	Weak transcription	Brain Germinal Matrix	brain
25	chr14:65200400-65207600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:65200600-65204400	Weak transcription	Left Ventricle	heart
27	chr14:65200600-65206000	Weak transcription	Fetal Brain Female	brain
28	chr14:65200800-65204400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:65201000-65221800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:65201400-65212600	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:65201800-65204400	Genic enhancers	Rectal Mucosa Donor 31	rectum
32	chr14:65201800-65204600	Genic enhancers	Fetal Intestine Small	intestine
33	chr14:65202200-65204400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:65202200-65204400	Genic enhancers	Fetal Intestine Large	intestine
35	chr14:65202200-65205400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:65202200-65211200	Strong transcription	Ovary	ovary
37	chr14:65202200-65217400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:65202400-65212000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr14:65202600-65211200	Weak transcription	Fetal Thymus	thymus
40	chr14:65202600-65211400	Strong transcription	Rectal Smooth Muscle	rectum
41	chr14:65202800-65204400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:65202800-65204400	Genic enhancers	Brain Cingulate Gyrus	brain
43	chr14:65202800-65204400	Genic enhancers	Colonic Mucosa	Colon
44	chr14:65202800-65204400	Strong transcription	Right Ventricle	heart
45	chr14:65202800-65205000	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr14:65202800-65205200	Genic enhancers	Pancreas	Pancrea
47	chr14:65202800-65205400	Genic enhancers	Esophagus	oesophagus
48	chr14:65202800-65207000	Strong transcription	Spleen	Spleen
49	chr14:65202800-65210800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:65202800-65211200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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