Variant report

Variant	rs992256
Chromosome Location	chr4:143114482-143114483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1219273	0.80[ASN][1000 genomes]
rs1219274	0.80[ASN][1000 genomes]
rs2130687	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2322544	0.89[ASN][1000 genomes]
rs28673676	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs336388	0.80[ASN][1000 genomes]
rs58375747	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72939254	0.95[ASN][1000 genomes]
rs72939257	0.93[ASN][1000 genomes]
rs73850818	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830097	chr4:142949705-143136372	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143070400-143134400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:143071000-143117800	Weak transcription	Psoas Muscle	Psoas
4	chr4:143072000-143137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:143081000-143128200	Weak transcription	NHDF-Ad	bronchial
6	chr4:143082000-143130000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:143082400-143134800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:143082800-143115800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:143089400-143118000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:143090000-143117400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:143092400-143116200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:143092400-143131000	Weak transcription	Fetal Intestine Large	intestine
13	chr4:143095000-143115400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:143095000-143128000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:143095000-143128200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:143095000-143154200	Weak transcription	Left Ventricle	heart
17	chr4:143097800-143114600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:143098600-143116600	Weak transcription	Fetal Intestine Small	intestine
19	chr4:143102400-143125600	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:143102400-143128000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:143103800-143116000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:143104800-143115600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:143109800-143118000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr4:143110200-143115000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:143110200-143118000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:143110200-143119200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:143111400-143115000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:143112000-143114600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:143112000-143116200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:143112200-143114600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:143112200-143114600	Strong transcription	HSMMtube	muscle
32	chr4:143112400-143114600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:143112400-143115200	Strong transcription	HSMM	muscle
34	chr4:143112600-143137600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:143113200-143117800	Strong transcription	HMEC	breast
36	chr4:143113400-143117600	Weak transcription	Small Intestine	intestine
37	chr4:143113600-143114600	Strong transcription	Primary T cells from cord blood	blood
38	chr4:143113600-143114800	Strong transcription	NHEK	skin
39	chr4:143113600-143115400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:143113800-143114600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr4:143113800-143114600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:143114000-143114600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr4:143114000-143128000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:143114200-143115800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:143114200-143115800	Weak transcription	Osteobl	bone
46	chr4:143114400-143115400	Weak transcription	Brain Germinal Matrix	brain
47	chr4:143114400-143115600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:143114400-143120600	Weak transcription	Dnd41	blood
49	chr4:143114400-143127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:143114400-143127800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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