Variant report

Variant	rs1014409
Chromosome Location	chr4:82344457-82344458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:82330902..82334984-chr4:82339313..82344776,5	K562	blood:
2	chr4:82342860..82344646-chr4:82347755..82350982,3	K562	blood:
3	chr4:82343748..82345292-chr4:82377281..82379980,2	K562	blood:
4	chr4:82338718..82341149-chr4:82343228..82345190,2	K562	blood:
5	chr4:82342729..82344646-chr4:82349482..82351498,2	K562	blood:

Variant related genes	Relation type
ENSG00000138670	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11542053	0.87[EUR][1000 genomes]
rs1986163	0.83[AMR][1000 genomes];1.00[EUR][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	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

No data

Chromatin state (count:71 , 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	chr4:82342600-82344600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr4:82342600-82345800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:82342600-82346600	Enhancers	HMEC	breast
11	chr4:82342600-82347600	Enhancers	Brain Angular Gyrus	brain
12	chr4:82342600-82349600	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:82342800-82345400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:82342800-82349200	Enhancers	Brain Substantia Nigra	brain
15	chr4:82342800-82353000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:82342800-82366600	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:82343000-82345400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:82343000-82345400	Weak transcription	Fetal Stomach	stomach
19	chr4:82343000-82347600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:82343000-82348200	Weak transcription	NH-A	brain
21	chr4:82343000-82348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:82343000-82350200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:82343000-82351400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:82343200-82345600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:82343200-82346400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:82343200-82348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:82343200-82348400	Weak transcription	Small Intestine	intestine
28	chr4:82343200-82350200	Weak transcription	Pancreas	Pancrea
29	chr4:82343400-82344600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:82343400-82344800	Enhancers	Duodenum Mucosa	Duodenum
31	chr4:82343400-82345000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:82343400-82345600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:82343400-82346400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:82343400-82346400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:82343400-82346600	Weak transcription	Fetal Intestine Large	intestine
36	chr4:82343400-82348200	Weak transcription	Left Ventricle	heart
37	chr4:82343400-82348400	Weak transcription	Lung	lung
38	chr4:82343400-82350000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:82343400-82350200	Weak transcription	Colonic Mucosa	Colon
40	chr4:82343400-82350200	Weak transcription	Right Ventricle	heart
41	chr4:82343400-82350400	Weak transcription	Fetal Muscle Leg	muscle
42	chr4:82343600-82345600	Weak transcription	Primary B cells from cord blood	blood
43	chr4:82343600-82348400	Enhancers	Brain Hippocampus Middle	brain
44	chr4:82343600-82350000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:82343800-82345000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:82344000-82344600	Weak transcription	Brain Anterior Caudate	brain
47	chr4:82344000-82345000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:82344000-82345000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:82344000-82345200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr4:82344000-82345200	Weak transcription	Stomach Mucosa	stomach

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