Variant report

Variant	rs4597836
Chromosome Location	chr4:106888263-106888264
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106887456..106889900-chr4:106890569..106892940,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11097905	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11945032	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13108005	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13135336	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17036415	1.00[CEU][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28373108	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28489230	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57388634	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6533227	0.95[ASN][1000 genomes]
rs6817700	0.94[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs7680832	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014993	chr4:106796019-106980727	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4597836	TET2	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106843600-106888400	Weak transcription	Pancreas	Pancrea
2	chr4:106868400-106892000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:106872200-106888400	Weak transcription	Lung	lung
4	chr4:106873000-106888400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:106878000-106888400	Weak transcription	Ovary	ovary
6	chr4:106881000-106890400	Weak transcription	Small Intestine	intestine
7	chr4:106884800-106888400	Weak transcription	Right Atrium	heart
8	chr4:106885400-106888400	Weak transcription	Left Ventricle	heart
9	chr4:106885400-106888400	Weak transcription	Right Ventricle	heart
10	chr4:106885400-106909800	Weak transcription	Aorta	Aorta
11	chr4:106885600-106891600	Weak transcription	Fetal Intestine Small	intestine
12	chr4:106885600-106894000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:106886600-106888600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:106886600-106888600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:106886600-106888600	Enhancers	Adipose Nuclei	Adipose
16	chr4:106886600-106888600	Enhancers	K562	blood
17	chr4:106886600-106888800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:106886600-106888800	Enhancers	HSMMtube	muscle
19	chr4:106886600-106889200	Enhancers	Fetal Heart	heart
20	chr4:106886600-106894600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:106886800-106888600	Enhancers	Placenta	Placenta
22	chr4:106886800-106888800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:106886800-106889200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:106887000-106888600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr4:106887000-106888600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:106887000-106888800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr4:106887000-106888800	Enhancers	Psoas Muscle	Psoas
28	chr4:106887200-106888800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:106887200-106889200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:106887200-106889200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:106887200-106889200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:106887200-106890400	Weak transcription	Spleen	Spleen
33	chr4:106887200-106892200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:106887400-106888400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:106887600-106888400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:106887600-106890000	Weak transcription	Fetal Intestine Large	intestine
37	chr4:106887800-106888400	Enhancers	NHDF-Ad	bronchial
38	chr4:106887800-106888600	Enhancers	Fetal Stomach	stomach
39	chr4:106887800-106889400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:106888000-106888600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:106888000-106888800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:106888200-106888600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:106888200-106888600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:106888200-106888600	Active TSS	Fetal Kidney	kidney
45	chr4:106888200-106888600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
46	chr4:106888200-106888800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:106888200-106888800	Enhancers	Fetal Muscle Leg	muscle

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