Variant report

Variant	rs10934493
Chromosome Location	chr3:119245957-119245958
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	chr3:119187617..119189310-chr3:119243541..119246268,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176142	Chromatin interaction
ENSG00000163389	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1060569	0.80[AFR][1000 genomes]
rs1967621	0.85[ASW][hapmap];1.00[YRI][hapmap]
rs4688005	0.81[YRI][hapmap]
rs4688007	0.86[YRI][hapmap]
rs4688012	1.00[YRI][hapmap]
rs6414283	0.81[YRI][hapmap]
rs6438535	0.85[ASW][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap]
rs73187888	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73187899	1.00[ASN][1000 genomes]
rs73189804	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73189805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628626	0.85[ASW][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7642502	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs9836627	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs9873196	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs9877854	0.85[ASW][hapmap];0.91[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][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	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	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119220200-119246800	Weak transcription	Stomach Mucosa	stomach
2	chr3:119228000-119250000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:119231800-119257200	Strong transcription	GM12878-XiMat	blood
4	chr3:119237800-119246000	Weak transcription	Right Ventricle	heart
5	chr3:119237800-119246400	Weak transcription	Pancreas	Pancrea
6	chr3:119237800-119246600	Weak transcription	Esophagus	oesophagus
7	chr3:119237800-119248000	Weak transcription	Aorta	Aorta
8	chr3:119237800-119251400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:119237800-119255800	Weak transcription	Spleen	Spleen
10	chr3:119238000-119248400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:119238200-119249000	Weak transcription	NHLF	lung
12	chr3:119238800-119246800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:119239600-119248400	Weak transcription	HSMMtube	muscle
14	chr3:119239600-119253000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:119239800-119247400	Weak transcription	Fetal Heart	heart
16	chr3:119239800-119252400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr3:119240200-119248600	Weak transcription	Fetal Brain Male	brain
18	chr3:119240400-119246000	Weak transcription	Ovary	ovary
19	chr3:119240600-119246600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:119240600-119246600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:119240600-119247400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr3:119240600-119249400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:119242400-119246400	Weak transcription	Gastric	stomach
24	chr3:119242400-119246800	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:119243000-119246600	Weak transcription	HepG2	liver
26	chr3:119243000-119247400	Weak transcription	Brain Germinal Matrix	brain
27	chr3:119243000-119248600	Weak transcription	NHDF-Ad	bronchial
28	chr3:119243200-119251400	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:119243400-119248400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:119243600-119246000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:119243600-119246000	Weak transcription	Brain Angular Gyrus	brain
32	chr3:119243600-119246000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr3:119243600-119246600	Weak transcription	Lung	lung
34	chr3:119243600-119246600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:119243600-119246800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr3:119243600-119247800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:119243600-119249400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:119243600-119250800	Weak transcription	Brain Anterior Caudate	brain
39	chr3:119243800-119248800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:119244000-119248200	Weak transcription	HSMM	muscle
41	chr3:119244200-119246800	Weak transcription	Primary T cells from cord blood	blood
42	chr3:119244200-119253400	Weak transcription	Brain Substantia Nigra	brain
43	chr3:119244400-119246000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:119244400-119246000	Weak transcription	Fetal Kidney	kidney
45	chr3:119244400-119246000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr3:119244400-119246000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr3:119244400-119246200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr3:119244400-119247600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr3:119244400-119248200	Weak transcription	HMEC	breast
50	chr3:119244400-119248400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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