Variant report

Variant	rs17027570
Chromosome Location	chr4:99339708-99339709
allele	C/T
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:7)

rs_ID	r²[population]
rs10516430	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027523	0.87[ASN][1000 genomes]
rs34271573	0.84[ASN][1000 genomes]
rs34489597	0.83[ASN][1000 genomes]
rs35038036	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4496588	0.84[ASN][1000 genomes]
rs57246256	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99288400-99342400	Weak transcription	A549	lung
2	chr4:99290600-99346000	Weak transcription	Fetal Lung	lung
3	chr4:99299400-99350800	Weak transcription	NHLF	lung
4	chr4:99307000-99366200	Weak transcription	Fetal Brain Male	brain
5	chr4:99308600-99363200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:99312000-99355400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:99317600-99342200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:99317800-99342800	Weak transcription	HSMMtube	muscle
9	chr4:99319200-99341800	Weak transcription	HMEC	breast
10	chr4:99325800-99367000	Weak transcription	Right Ventricle	heart
11	chr4:99326400-99342200	Weak transcription	Brain Angular Gyrus	brain
12	chr4:99327800-99355400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:99330800-99342200	Weak transcription	Brain Substantia Nigra	brain
14	chr4:99333400-99342200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:99333800-99342200	Weak transcription	Brain Anterior Caudate	brain
16	chr4:99334000-99339800	Weak transcription	Fetal Stomach	stomach
17	chr4:99334000-99342200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:99334000-99355000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:99334200-99339800	Weak transcription	Ovary	ovary
20	chr4:99334200-99339800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:99334200-99340000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr4:99334200-99342000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:99334200-99342000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:99334200-99342200	Weak transcription	Brain Hippocampus Middle	brain
25	chr4:99334200-99342200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:99334200-99342400	Weak transcription	Pancreas	Pancrea
27	chr4:99334200-99342400	Weak transcription	GM12878-XiMat	blood
28	chr4:99334200-99345000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:99334200-99350800	Weak transcription	NHEK	skin
30	chr4:99334200-99355200	Weak transcription	Fetal Kidney	kidney
31	chr4:99334200-99355800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:99334400-99339800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:99334400-99340000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:99334400-99340000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:99334400-99340000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:99334400-99340200	Weak transcription	Left Ventricle	heart
37	chr4:99334400-99341200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr4:99334400-99341600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:99334400-99341600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:99334400-99341800	Weak transcription	Fetal Muscle Leg	muscle
41	chr4:99334400-99342200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:99334400-99342200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:99334400-99342200	Weak transcription	Placenta	Placenta
44	chr4:99334400-99342400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:99334400-99342400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:99334400-99342400	Weak transcription	Thymus	Thymus
47	chr4:99334400-99343000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:99334400-99343800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:99334400-99344800	Weak transcription	Fetal Intestine Small	intestine
50	chr4:99334400-99345200	Weak transcription	Brain Germinal Matrix	brain

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