Variant report

Variant	rs1452371
Chromosome Location	chr4:82346201-82346202
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:82341740..82344236-chr4:82345813..82347931,2	MCF-7	breast:
2	chr4:82345669..82347516-chr4:82348800..82350865,2	K562	blood:
3	chr4:82326927..82327852-chr4:82345884..82346881,4	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10010385	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs10032184	0.94[ASN][1000 genomes]
rs11934269	0.94[ASN][1000 genomes]
rs11937878	0.94[ASN][1000 genomes]
rs1444891	1.00[CHB][hapmap]
rs1444893	1.00[CHB][hapmap]
rs2868215	1.00[CHB][hapmap]
rs57329549	0.93[ASN][1000 genomes]
rs59979939	1.00[ASN][1000 genomes]
rs6535250	1.00[CHB][hapmap]
rs6535251	1.00[CHB][hapmap]
rs6845394	0.94[ASN][1000 genomes]
rs7670580	1.00[CHB][hapmap]
rs7687318	1.00[CHB][hapmap]

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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82339400-82350000	Weak transcription	Gastric	stomach
2	chr4:82340600-82346600	Weak transcription	Primary T cells from cord blood	blood
3	chr4:82341000-82350600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:82342000-82347400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:82342400-82348600	Enhancers	NHEK	skin
6	chr4:82342600-82346600	Enhancers	HMEC	breast
7	chr4:82342600-82347600	Enhancers	Brain Angular Gyrus	brain
8	chr4:82342600-82349600	Enhancers	Brain Cingulate Gyrus	brain
9	chr4:82342800-82349200	Enhancers	Brain Substantia Nigra	brain
10	chr4:82342800-82353000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:82342800-82366600	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:82343000-82347600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:82343000-82348200	Weak transcription	NH-A	brain
14	chr4:82343000-82348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:82343000-82350200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:82343000-82351400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:82343200-82346400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:82343200-82348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:82343200-82348400	Weak transcription	Small Intestine	intestine
20	chr4:82343200-82350200	Weak transcription	Pancreas	Pancrea
21	chr4:82343400-82346400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:82343400-82346400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:82343400-82346600	Weak transcription	Fetal Intestine Large	intestine
24	chr4:82343400-82348200	Weak transcription	Left Ventricle	heart
25	chr4:82343400-82348400	Weak transcription	Lung	lung
26	chr4:82343400-82350000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:82343400-82350200	Weak transcription	Colonic Mucosa	Colon
28	chr4:82343400-82350200	Weak transcription	Right Ventricle	heart
29	chr4:82343400-82350400	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:82343600-82348400	Enhancers	Brain Hippocampus Middle	brain
31	chr4:82343600-82350000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:82344000-82346600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:82344000-82346600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr4:82344000-82346800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:82344000-82347000	Enhancers	K562	blood
36	chr4:82344000-82347200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:82344000-82347400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:82344000-82350800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr4:82344200-82346800	Weak transcription	Esophagus	oesophagus
40	chr4:82344200-82350600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr4:82344400-82346800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:82344600-82348600	Weak transcription	Brain Germinal Matrix	brain
43	chr4:82344600-82349000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:82344600-82349600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr4:82344800-82346600	Weak transcription	Adipose Nuclei	Adipose
46	chr4:82345000-82348000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:82345200-82346800	Enhancers	Fetal Lung	lung
48	chr4:82345200-82348400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:82345400-82346400	Enhancers	Fetal Kidney	kidney
50	chr4:82345400-82346400	Enhancers	Placenta	Placenta

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