Variant report

Variant	rs7687186
Chromosome Location	chr4:82345410-82345411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1035006	0.84[ASN][1000 genomes]
rs1035007	0.84[ASN][1000 genomes]
rs12331490	0.82[ASN][1000 genomes]
rs2159657	0.87[ASN][1000 genomes]
rs6535248	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7687411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv829985	chr4:82199328-82353656	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv517921	chr4:82315470-82346835	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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
6	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82335000-82345600	Weak transcription	Aorta	Aorta
2	chr4:82339400-82350000	Weak transcription	Gastric	stomach
3	chr4:82340200-82345600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:82340600-82346600	Weak transcription	Primary T cells from cord blood	blood
5	chr4:82341000-82350600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:82342000-82347400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:82342400-82348600	Enhancers	NHEK	skin
8	chr4:82342600-82345800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:82342600-82346600	Enhancers	HMEC	breast
10	chr4:82342600-82347600	Enhancers	Brain Angular Gyrus	brain
11	chr4:82342600-82349600	Enhancers	Brain Cingulate Gyrus	brain
12	chr4:82342800-82349200	Enhancers	Brain Substantia Nigra	brain
13	chr4:82342800-82353000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:82342800-82366600	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:82343000-82347600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:82343000-82348200	Weak transcription	NH-A	brain
17	chr4:82343000-82348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:82343000-82350200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:82343000-82351400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:82343200-82345600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:82343200-82346400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:82343200-82348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:82343200-82348400	Weak transcription	Small Intestine	intestine
24	chr4:82343200-82350200	Weak transcription	Pancreas	Pancrea
25	chr4:82343400-82345600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:82343400-82346400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:82343400-82346400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:82343400-82346600	Weak transcription	Fetal Intestine Large	intestine
29	chr4:82343400-82348200	Weak transcription	Left Ventricle	heart
30	chr4:82343400-82348400	Weak transcription	Lung	lung
31	chr4:82343400-82350000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:82343400-82350200	Weak transcription	Colonic Mucosa	Colon
33	chr4:82343400-82350200	Weak transcription	Right Ventricle	heart
34	chr4:82343400-82350400	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:82343600-82345600	Weak transcription	Primary B cells from cord blood	blood
36	chr4:82343600-82348400	Enhancers	Brain Hippocampus Middle	brain
37	chr4:82343600-82350000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:82344000-82345600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:82344000-82345600	Weak transcription	Fetal Intestine Small	intestine
40	chr4:82344000-82345800	Weak transcription	Liver	Liver
41	chr4:82344000-82346200	Weak transcription	Fetal Thymus	thymus
42	chr4:82344000-82346200	Weak transcription	Thymus	Thymus
43	chr4:82344000-82346600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:82344000-82346600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr4:82344000-82346800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:82344000-82347000	Enhancers	K562	blood
47	chr4:82344000-82347200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:82344000-82347400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:82344000-82350800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:82344200-82346200	Weak transcription	Primary B cells from peripheral blood	blood

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