Variant report

Variant	rs2172025
Chromosome Location	chr4:143204004-143204005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17015856	0.85[AMR][1000 genomes]
rs1907114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4330423	0.87[AFR][1000 genomes]
rs7666578	0.85[AMR][1000 genomes]
rs7677512	1.00[AMR][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	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
4	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
5	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143183000-143204800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143187400-143218600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:143192000-143210600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:143192000-143219400	Weak transcription	Dnd41	blood
5	chr4:143192200-143206000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:143196000-143225200	Weak transcription	NHDF-Ad	bronchial
7	chr4:143199400-143230800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:143199600-143204200	Weak transcription	Osteobl	bone
9	chr4:143199800-143204200	Weak transcription	Primary T cells from cord blood	blood
10	chr4:143200000-143215000	Weak transcription	HSMMtube	muscle
11	chr4:143200000-143240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:143200200-143210600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:143201400-143204200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr4:143202000-143207400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:143203000-143204200	Enhancers	NHEK	skin
16	chr4:143203200-143204200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:143203200-143204200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:143203200-143204400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:143203200-143205400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:143203200-143205600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:143203200-143206800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr4:143203400-143204600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:143203600-143204200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:143203800-143204400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr4:143203800-143205400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr4:143203800-143205800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr4:143203800-143206200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:143203800-143206400	Weak transcription	Aorta	Aorta
29	chr4:143203800-143207400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:143204000-143204200	Enhancers	HMEC	breast
31	chr4:143204000-143204400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr4:143204000-143204800	Strong transcription	HSMM	muscle
33	chr4:143204000-143206600	Weak transcription	Pancreas	Pancrea
34	chr4:143204000-143230600	Weak transcription	Left Ventricle	heart

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