Variant report

Variant	rs1995356
Chromosome Location	chr3:143029022-143029023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143018946..143021692-chr3:143026388..143029368,2	K562	blood:
2	chr3:143026689..143032158-chr3:143032635..143039297,9	K562	blood:
3	chr3:143028279..143030490-chr3:143036319..143039500,3	K562	blood:
4	chr3:142947986..142949747-chr3:143028626..143030178,2	K562	blood:
5	chr3:142918145..142921332-chr3:143025862..143029822,3	K562	blood:

Variant related genes	Relation type
ENSG00000240888	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10804692	1.00[CHB][hapmap]
rs11711068	1.00[CHB][hapmap]
rs11717437	1.00[CHB][hapmap]
rs11718728	1.00[CHB][hapmap]
rs11915421	1.00[CHB][hapmap]
rs11915761	1.00[CHB][hapmap]
rs11927016	1.00[CHB][hapmap]
rs13061014	1.00[CHB][hapmap]
rs13072761	1.00[CHB][hapmap]
rs13074801	1.00[CHB][hapmap]
rs13099124	1.00[CHB][hapmap]
rs1501631	1.00[CHB][hapmap]
rs1604377	1.00[CHB][hapmap]
rs1604380	1.00[CHB][hapmap]
rs1609727	1.00[CHB][hapmap]
rs1610217	1.00[CHB][hapmap]
rs17637392	1.00[CHB][hapmap]
rs1808882	1.00[CHB][hapmap]
rs1812200	1.00[CHB][hapmap]
rs1875462	1.00[CHB][hapmap]
rs4839627	1.00[CHB][hapmap]
rs7627844	1.00[CHB][hapmap]
rs7642361	1.00[CHB][hapmap]
rs7652557	1.00[CHB][hapmap]
rs894176	0.84[CEU][hapmap];1.00[CHB][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs9850863	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.80[MKK][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9862119	1.00[CHB][hapmap]

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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv520125	chr3:143020870-143029022	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143015200-143039600	Weak transcription	Brain Substantia Nigra	brain
2	chr3:143018400-143039400	Weak transcription	Primary B cells from cord blood	blood
3	chr3:143022000-143032400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:143022400-143032200	Weak transcription	Fetal Thymus	thymus
5	chr3:143022400-143048200	Weak transcription	Psoas Muscle	Psoas
6	chr3:143022600-143030000	Weak transcription	HSMMtube	muscle
7	chr3:143025600-143040000	Weak transcription	Right Atrium	heart
8	chr3:143026600-143033200	Weak transcription	HSMM	muscle
9	chr3:143026600-143047400	Weak transcription	Spleen	Spleen
10	chr3:143026800-143029600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:143026800-143032600	Weak transcription	Right Ventricle	heart
12	chr3:143027000-143030200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:143027000-143031200	Weak transcription	Dnd41	blood
14	chr3:143027000-143032600	Weak transcription	Left Ventricle	heart
15	chr3:143028400-143029400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:143028400-143029400	Enhancers	Adipose Nuclei	Adipose
17	chr3:143028400-143029600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:143028400-143029600	Enhancers	Fetal Lung	lung
19	chr3:143028400-143029800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:143028600-143029200	Enhancers	Aorta	Aorta
21	chr3:143028600-143029200	Enhancers	Ovary	ovary
22	chr3:143028600-143029600	Weak transcription	K562	blood
23	chr3:143028600-143029800	Enhancers	Fetal Muscle Leg	muscle
24	chr3:143028800-143029400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:143029000-143029200	Enhancers	Primary T cells from cord blood	blood
26	chr3:143029000-143029600	Enhancers	Fetal Kidney	kidney
27	chr3:143029000-143030200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr3:143029000-143032400	Weak transcription	NHDF-Ad	bronchial

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