Variant report

Variant	rs2159657
Chromosome Location	chr4:82355593-82355594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1035006	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1035007	0.86[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1077802	0.85[CHD][hapmap]
rs2120817	0.85[CHD][hapmap]
rs28431139	0.85[ASN][1000 genomes]
rs6535248	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6814080	0.82[CHB][hapmap]
rs6839120	0.82[CHB][hapmap];0.89[CHD][hapmap]
rs6847612	0.83[CEU][hapmap]
rs7687186	0.87[ASN][1000 genomes]
rs7687411	0.87[ASN][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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv4404	chr4:82340986-82386148	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv829986	chr4:82345163-82509860	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82342800-82366600	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:82345600-82356000	Strong transcription	Primary B cells from cord blood	blood
3	chr4:82345600-82380600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:82345800-82361400	Weak transcription	Stomach Mucosa	stomach
5	chr4:82345800-82367600	Strong transcription	Liver	Liver
6	chr4:82345800-82385800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:82346200-82356000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:82346200-82356200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr4:82346200-82375800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr4:82346200-82381600	Strong transcription	Fetal Thymus	thymus
11	chr4:82346400-82360600	Weak transcription	Fetal Kidney	kidney
12	chr4:82346400-82368000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:82346600-82380800	Strong transcription	Adipose Nuclei	Adipose
14	chr4:82346600-82386600	Weak transcription	Psoas Muscle	Psoas
15	chr4:82346600-82388400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:82346800-82382400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:82347000-82375600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:82347200-82378800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:82347400-82355600	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr4:82347400-82362000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:82348800-82360400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:82349000-82360600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:82349000-82361400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:82349000-82366600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:82349000-82367800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:82349000-82368800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:82349000-82374800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:82349000-82385200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:82349200-82368000	Weak transcription	Brain Germinal Matrix	brain
30	chr4:82349400-82357000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:82349600-82357000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:82349600-82360600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:82349600-82364600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:82350000-82355800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:82350000-82356000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:82350000-82356000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr4:82350200-82356200	Strong transcription	Placenta	Placenta
38	chr4:82350200-82361400	Weak transcription	Fetal Brain Male	brain
39	chr4:82350400-82356200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr4:82350600-82363000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:82351000-82377600	Weak transcription	Right Ventricle	heart
42	chr4:82351200-82356000	Strong transcription	Fetal Intestine Large	intestine
43	chr4:82351200-82361000	Weak transcription	Colonic Mucosa	Colon
44	chr4:82351200-82366400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:82351400-82356200	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:82351800-82362800	Weak transcription	Fetal Muscle Leg	muscle
47	chr4:82351800-82362800	Weak transcription	Gastric	stomach
48	chr4:82351800-82369200	Weak transcription	Esophagus	oesophagus
49	chr4:82351800-82375000	Weak transcription	Pancreas	Pancrea
50	chr4:82351800-82382800	Weak transcription	Spleen	Spleen

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