Variant report

Variant	rs11674642
Chromosome Location	chr2:9844069-9844070
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9770018..9771958-chr2:9842491..9844258,2	K562	blood:
2	chr2:9770293..9771816-chr2:9842441..9845171,2	K562	blood:
3	chr2:9842350..9846952-chr2:9858838..9862900,5	K562	blood:
4	chr2:9843482..9849818-chr2:9850036..9855209,6	K562	blood:
5	chr2:9843332..9845543-chr2:9887968..9890552,2	K562	blood:
6	chr2:9694686..9696238-chr2:9843890..9846874,2	MCF-7	breast:
7	chr2:9769874..9772377-chr2:9843721..9845301,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151694	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10178017	0.90[JPT][hapmap]
rs10200779	0.91[JPT][hapmap]
rs1123269	0.90[JPT][hapmap]
rs11680429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12466594	0.90[ASN][1000 genomes]
rs12475853	0.89[JPT][hapmap]
rs12476232	0.95[JPT][hapmap]
rs13028425	0.91[JPT][hapmap]
rs13395171	0.91[JPT][hapmap]
rs13398163	0.91[JPT][hapmap]
rs13398193	0.91[JPT][hapmap]
rs13398304	0.86[JPT][hapmap]
rs2357263	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4668636	0.95[JPT][hapmap]
rs4668637	0.90[JPT][hapmap]
rs4669427	0.91[JPT][hapmap]
rs4669428	0.91[JPT][hapmap]
rs4669429	0.95[JPT][hapmap]
rs4669445	0.95[JPT][hapmap]
rs6432033	0.91[JPT][hapmap]
rs6735280	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6738072	0.96[ASN][1000 genomes]
rs6756567	0.91[JPT][hapmap]
rs7423455	0.90[JPT][hapmap]
rs7578933	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7602784	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7605675	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9837000-9849600	Weak transcription	Pancreas	Pancrea
2	chr2:9842200-9844400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:9842200-9845400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr2:9842400-9844200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:9842400-9844400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:9842400-9844400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:9842400-9844400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:9842400-9844400	Enhancers	HMEC	breast
9	chr2:9842400-9844600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:9842400-9844600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:9842400-9845200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:9842400-9845400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:9842400-9845600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:9842600-9844200	Enhancers	Right Ventricle	heart
15	chr2:9842600-9844400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:9842600-9844400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr2:9842600-9844400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:9842600-9844400	Enhancers	Fetal Muscle Leg	muscle
19	chr2:9842600-9844400	Flanking Active TSS	A549	lung
20	chr2:9842600-9844400	Enhancers	NHDF-Ad	bronchial
21	chr2:9842600-9844400	Enhancers	NHEK	skin
22	chr2:9842600-9844400	Enhancers	NHLF	lung
23	chr2:9842600-9844600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:9842800-9844200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:9842800-9844200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr2:9842800-9844200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:9842800-9844200	Enhancers	Esophagus	oesophagus
28	chr2:9842800-9844200	Enhancers	HSMMtube	muscle
29	chr2:9842800-9844400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:9842800-9844400	Enhancers	Placenta	Placenta
31	chr2:9842800-9844400	Flanking Active TSS	Hela-S3	cervix
32	chr2:9842800-9844400	Enhancers	HSMM	muscle
33	chr2:9842800-9844400	Enhancers	HUVEC	blood vessel
34	chr2:9842800-9845000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:9842800-9845000	Enhancers	Spleen	Spleen
36	chr2:9843000-9844200	Enhancers	Brain Hippocampus Middle	brain
37	chr2:9843000-9844200	Enhancers	Fetal Lung	lung
38	chr2:9843000-9844400	Enhancers	Fetal Muscle Trunk	muscle
39	chr2:9843000-9844400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr2:9843000-9844400	Enhancers	NH-A	brain
41	chr2:9843000-9845000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:9843200-9844200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:9843200-9844200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:9843200-9844200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:9843200-9844200	Enhancers	Stomach Smooth Muscle	stomach
46	chr2:9843200-9845200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:9843400-9844200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:9843400-9844200	Enhancers	Gastric	stomach
49	chr2:9843400-9844200	Enhancers	Right Atrium	heart
50	chr2:9843400-9844400	Enhancers	Primary monocytes fromperipheralblood	blood

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