Variant report

Variant	rs62267818
Chromosome Location	chr3:143163332-143163333
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143158359..143160882-chr3:143160901..143163490,3	MCF-7	breast:
2	chr3:143155818..143158347-chr3:143158521..143164816,7	K562	blood:
3	chr3:142720297..142722874-chr3:143161898..143164583,2	K562	blood:
4	chr12:53399929..53400470-chr3:143162782..143163653,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000063046	Chromatin interaction
ENSG00000163714	Chromatin interaction
ENSG00000268129	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10513210	1.00[ASN][1000 genomes]
rs11705715	1.00[ASN][1000 genomes]
rs11716124	1.00[ASN][1000 genomes]
rs16853767	1.00[ASN][1000 genomes]
rs16853866	1.00[ASN][1000 genomes]
rs16853903	1.00[ASN][1000 genomes]
rs2083528	1.00[ASN][1000 genomes]
rs35090761	1.00[ASN][1000 genomes]
rs4024563	1.00[ASN][1000 genomes]
rs5003886	1.00[ASN][1000 genomes]
rs55906926	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6784124	1.00[ASN][1000 genomes]
rs73867637	1.00[ASN][1000 genomes]
rs9850863	1.00[ASN][1000 genomes]
rs9862119	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143147600-143164200	Enhancers	Fetal Thymus	thymus
2	chr3:143149600-143163600	Weak transcription	Primary B cells from cord blood	blood
3	chr3:143155800-143169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:143158000-143163600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:143159600-143200800	Weak transcription	Esophagus	oesophagus
6	chr3:143160800-143163400	Enhancers	Dnd41	blood
7	chr3:143161000-143163800	Enhancers	Stomach Mucosa	stomach
8	chr3:143161400-143164000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:143161400-143164600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:143161600-143163400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:143161600-143163400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:143161600-143163400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:143161600-143163400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr3:143161600-143163400	Enhancers	K562	blood
15	chr3:143161600-143164000	Enhancers	Primary T cells from cord blood	blood
16	chr3:143161600-143164000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:143161600-143164000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr3:143161600-143164400	Enhancers	Osteobl	bone
19	chr3:143161600-143164600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:143161600-143164600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:143161800-143163400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr3:143161800-143163600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr3:143161800-143163800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr3:143161800-143164400	Enhancers	HSMM	muscle
25	chr3:143161800-143164600	Enhancers	NHDF-Ad	bronchial
26	chr3:143161800-143164800	Enhancers	HMEC	breast
27	chr3:143162000-143163400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr3:143162000-143163800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr3:143162000-143164000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:143162000-143164200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:143162000-143164400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr3:143162000-143164600	Enhancers	NHEK	skin
33	chr3:143162000-143164800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr3:143162200-143163400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr3:143162200-143163400	Enhancers	HSMMtube	muscle
36	chr3:143162200-143163600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr3:143162200-143163800	Enhancers	Primary hematopoietic stem cells	blood
38	chr3:143162200-143163800	Enhancers	Fetal Lung	lung
39	chr3:143162200-143164200	Enhancers	Adipose Nuclei	Adipose
40	chr3:143162200-143164400	Enhancers	NHLF	lung
41	chr3:143162200-143164600	Enhancers	GM12878-XiMat	blood
42	chr3:143162400-143163400	Enhancers	Fetal Intestine Small	intestine
43	chr3:143162400-143164600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:143162400-143164600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:143162600-143163400	Enhancers	Fetal Kidney	kidney
46	chr3:143162600-143164800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:143162600-143169800	Weak transcription	Brain Substantia Nigra	brain
48	chr3:143162800-143163400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr3:143162800-143163400	Flanking Active TSS	Hela-S3	cervix
50	chr3:143162800-143167600	Weak transcription	Brain Inferior Temporal Lobe	brain

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