Variant report

Variant	rs17281570
Chromosome Location	chr3:119037199-119037200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119034010..119039174-chr3:119039543..119045383,10	K562	blood:
2	chr3:119009764..119012007-chr3:119036606..119039583,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241155	Chromatin interaction
ENSG00000031081	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10511388	1.00[GIH][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829700	0.83[EUR][1000 genomes]
rs16829712	0.86[TSI][hapmap]
rs16829724	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs17281584	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17281591	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73854484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878808	0.86[TSI][hapmap]
rs880097	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289128	0.85[CEU][hapmap]
rs935618	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9845965	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv965394	chr3:119032370-119038786	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119015000-119041200	Weak transcription	Aorta	Aorta
2	chr3:119015200-119041000	Weak transcription	Fetal Kidney	kidney
3	chr3:119016000-119041000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:119016400-119040800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:119016400-119041000	Weak transcription	Fetal Intestine Small	intestine
6	chr3:119017400-119040600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:119019200-119040800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:119020400-119040600	Weak transcription	Esophagus	oesophagus
9	chr3:119021200-119041000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:119021200-119041000	Weak transcription	Fetal Thymus	thymus
11	chr3:119022200-119040800	Weak transcription	Brain Angular Gyrus	brain
12	chr3:119022400-119040600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:119022400-119041000	Weak transcription	Primary B cells from cord blood	blood
14	chr3:119022400-119041000	Weak transcription	Fetal Intestine Large	intestine
15	chr3:119022400-119041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:119022600-119040600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr3:119024400-119040600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:119024800-119040600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:119024800-119041000	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:119024800-119041000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:119025000-119040800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:119027600-119041000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:119029400-119039000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:119029600-119041200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:119030000-119041000	Weak transcription	Brain Anterior Caudate	brain
26	chr3:119030000-119041200	Weak transcription	Gastric	stomach
27	chr3:119030200-119038800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:119030200-119041000	Weak transcription	Colonic Mucosa	Colon
29	chr3:119030600-119039000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:119030800-119038600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:119030800-119040400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr3:119030800-119040800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:119031000-119038200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr3:119031000-119040400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:119031000-119040600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:119031000-119040600	Weak transcription	NHDF-Ad	bronchial
37	chr3:119031000-119041000	Weak transcription	NHLF	lung
38	chr3:119031200-119040600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:119031200-119041000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:119031200-119041200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:119031400-119041000	Weak transcription	NHEK	skin
42	chr3:119033200-119038600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr3:119033200-119040600	Weak transcription	Pancreas	Pancrea
44	chr3:119033200-119041000	Weak transcription	Thymus	Thymus
45	chr3:119033400-119037600	Weak transcription	HSMM	muscle
46	chr3:119033400-119039600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:119033400-119039600	Weak transcription	NH-A	brain
48	chr3:119033400-119040400	Weak transcription	Fetal Muscle Leg	muscle
49	chr3:119033400-119040600	Weak transcription	Osteobl	bone
50	chr3:119033400-119041000	Weak transcription	Duodenum Mucosa	Duodenum

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