Variant report

Variant	rs11238457
Chromosome Location	chr10:43654783-43654784
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	chr10:43649752..43652450-chr10:43654182..43655742,2	K562	blood:
2	chr10:43642146..43644842-chr10:43653993..43656296,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10899775	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238443	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11238461	0.95[AFR][1000 genomes]
rs11238462	0.85[AFR][1000 genomes]
rs11238482	1.00[EUR][1000 genomes]
rs12243788	0.85[AFR][1000 genomes]
rs12244413	0.84[ASN][1000 genomes]
rs12244691	0.85[AFR][1000 genomes]
rs12256246	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12257299	0.85[AFR][1000 genomes]
rs12266774	0.85[AFR][1000 genomes]
rs12570625	0.83[ASN][1000 genomes]
rs12570866	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12571683	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377137	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41301585	1.00[ASN][1000 genomes]
rs4285827	0.84[ASN][1000 genomes]
rs61229986	0.84[ASN][1000 genomes]
rs6593509	0.83[AFR][1000 genomes]
rs74135446	1.00[EUR][1000 genomes]
rs7895798	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7909755	0.96[AFR][1000 genomes]
rs7913867	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7914773	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1042310	chr10:43623060-43688505	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43635400-43655600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:43635600-43689000	Weak transcription	Esophagus	oesophagus
3	chr10:43636600-43654800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:43636600-43655600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:43637400-43655200	Weak transcription	HSMM	muscle
6	chr10:43641400-43657400	Weak transcription	A549	lung
7	chr10:43645600-43656800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr10:43646600-43658400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:43647000-43655600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr10:43647200-43656200	Weak transcription	Spleen	Spleen
11	chr10:43647200-43656400	Weak transcription	Fetal Muscle Leg	muscle
12	chr10:43647200-43667800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:43647400-43654800	Weak transcription	Psoas Muscle	Psoas
14	chr10:43647400-43655200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:43647400-43655400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:43647400-43655600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr10:43647400-43656200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr10:43647400-43656400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr10:43647400-43656800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr10:43647400-43657200	Weak transcription	Left Ventricle	heart
21	chr10:43647400-43667800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:43647600-43654800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:43647600-43654800	Weak transcription	Adipose Nuclei	Adipose
24	chr10:43647600-43654800	Weak transcription	HSMMtube	muscle
25	chr10:43647600-43654800	Weak transcription	NHLF	lung
26	chr10:43647600-43655600	Weak transcription	Brain Anterior Caudate	brain
27	chr10:43647600-43655600	Weak transcription	GM12878-XiMat	blood
28	chr10:43647600-43659600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:43647600-43664000	Weak transcription	Fetal Brain Male	brain
30	chr10:43647600-43667000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr10:43649200-43654800	Weak transcription	Osteobl	bone
32	chr10:43649200-43657000	Weak transcription	Aorta	Aorta
33	chr10:43649200-43661600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr10:43649400-43655400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:43649600-43657600	Weak transcription	Colon Smooth Muscle	Colon
36	chr10:43650400-43667600	Weak transcription	Brain Germinal Matrix	brain
37	chr10:43650800-43656200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:43651000-43655400	Weak transcription	NHEK	skin
39	chr10:43651000-43671800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr10:43651200-43655600	Weak transcription	Small Intestine	intestine
41	chr10:43651200-43656800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr10:43651400-43654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr10:43651400-43655200	Weak transcription	Primary B cells from cord blood	blood
44	chr10:43652400-43655200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr10:43652400-43656000	Weak transcription	Fetal Brain Female	brain
46	chr10:43652400-43657000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:43652400-43668600	Weak transcription	Fetal Heart	heart
48	chr10:43652600-43655400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr10:43652600-43655600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr10:43652600-43655600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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