Variant report

Variant	rs10194533
Chromosome Location	chr2:39205988-39205989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39204550..39206116-chr2:39208967..39211436,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10166557	1.00[EUR][1000 genomes]
rs10173380	1.00[EUR][1000 genomes]
rs10173563	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10184046	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10184855	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10186842	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10188701	1.00[EUR][1000 genomes]
rs10189440	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10196863	1.00[EUR][1000 genomes]
rs10199955	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10202876	1.00[EUR][1000 genomes]
rs10203565	1.00[EUR][1000 genomes]
rs10207187	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10207984	1.00[EUR][1000 genomes]
rs10495882	1.00[EUR][1000 genomes]
rs12329307	1.00[EUR][1000 genomes]
rs13387231	1.00[EUR][1000 genomes]
rs13394446	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13395448	1.00[EUR][1000 genomes]
rs13407659	1.00[EUR][1000 genomes]
rs13411756	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs13416725	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13424493	1.00[EUR][1000 genomes]
rs13425165	1.00[EUR][1000 genomes]
rs13428418	1.00[EUR][1000 genomes]
rs13432395	1.00[EUR][1000 genomes]
rs1376461	0.82[JPT][hapmap]
rs1451278	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023148	1.00[EUR][1000 genomes]
rs17023149	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023214	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023241	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023272	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17023292	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs17425982	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1901290	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2218850	1.00[EUR][1000 genomes]
rs2373466	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2373472	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3099938	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3099947	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs3099953	1.00[EUR][1000 genomes]
rs3099973	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3099986	1.00[EUR][1000 genomes]
rs3099996	1.00[EUR][1000 genomes]
rs3099997	1.00[EUR][1000 genomes]
rs3112138	0.82[JPT][hapmap]
rs3112145	1.00[EUR][1000 genomes]
rs3112146	1.00[EUR][1000 genomes]
rs3112148	1.00[EUR][1000 genomes]
rs3112155	1.00[EUR][1000 genomes]
rs3112157	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3112158	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs3112160	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs3112164	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs3112165	1.00[CHB][hapmap]
rs3112174	1.00[EUR][1000 genomes]
rs3112176	1.00[CEU][hapmap]
rs3112177	1.00[EUR][1000 genomes]
rs55890805	1.00[EUR][1000 genomes]
rs56269328	1.00[EUR][1000 genomes]
rs56724744	1.00[EUR][1000 genomes]
rs57359008	1.00[EUR][1000 genomes]
rs59259697	1.00[EUR][1000 genomes]
rs60703378	1.00[EUR][1000 genomes]
rs61596046	1.00[EUR][1000 genomes]
rs6544182	0.82[JPT][hapmap]
rs6544200	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6712917	0.82[JPT][hapmap]
rs6722478	0.82[JPT][hapmap]
rs6734212	1.00[EUR][1000 genomes]
rs6737680	1.00[EUR][1000 genomes]
rs6748000	0.82[JPT][hapmap]
rs6751306	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6753426	1.00[EUR][1000 genomes]
rs6754613	1.00[EUR][1000 genomes]
rs718312	1.00[EUR][1000 genomes]
rs72906436	1.00[EUR][1000 genomes]
rs72906467	1.00[EUR][1000 genomes]
rs72916836	1.00[EUR][1000 genomes]
rs72916860	1.00[EUR][1000 genomes]
rs72918710	1.00[EUR][1000 genomes]
rs72925431	1.00[EUR][1000 genomes]
rs72925433	1.00[EUR][1000 genomes]
rs72925439	1.00[EUR][1000 genomes]
rs7340303	1.00[EUR][1000 genomes]
rs7368897	0.82[JPT][hapmap]
rs73930506	1.00[EUR][1000 genomes]
rs7559174	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7559586	1.00[EUR][1000 genomes]
rs7564481	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7565814	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7571608	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7571719	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs7574214	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7582586	1.00[EUR][1000 genomes]
rs7583010	1.00[CEU][hapmap]
rs7589303	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7599990	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs921433	0.82[JPT][hapmap]
rs9646968	1.00[EUR][1000 genomes]
rs9678084	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]

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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS 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
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39188000-39212400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:39188000-39212600	Weak transcription	Gastric	stomach
3	chr2:39188000-39213000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:39188000-39222400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:39188200-39210800	Weak transcription	HMEC	breast
6	chr2:39188200-39211800	Weak transcription	Fetal Lung	lung
7	chr2:39188400-39212000	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:39188400-39212400	Weak transcription	Fetal Brain Female	brain
9	chr2:39189200-39212000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:39192000-39207400	Weak transcription	Fetal Intestine Small	intestine
11	chr2:39194000-39213000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:39194400-39218600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:39194600-39212000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:39194600-39212800	Weak transcription	Spleen	Spleen
15	chr2:39195200-39210400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:39195400-39212600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:39196600-39212600	Weak transcription	Aorta	Aorta
18	chr2:39197000-39225800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:39197200-39211000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:39197400-39210800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:39198600-39212600	Weak transcription	HSMMtube	muscle
22	chr2:39198800-39212000	Weak transcription	Fetal Stomach	stomach
23	chr2:39199200-39211000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:39199600-39220000	Weak transcription	Brain Germinal Matrix	brain
25	chr2:39200000-39212000	Weak transcription	Primary T cells from cord blood	blood
26	chr2:39200000-39212200	Weak transcription	Pancreas	Pancrea
27	chr2:39200200-39212000	Weak transcription	Right Ventricle	heart
28	chr2:39200600-39210800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:39200800-39227800	Weak transcription	Fetal Heart	heart
30	chr2:39201200-39208000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:39201200-39210600	Weak transcription	HSMM	muscle
32	chr2:39201600-39211800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:39201600-39212800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:39201800-39212800	Weak transcription	Brain Angular Gyrus	brain
35	chr2:39201800-39218600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:39202000-39210400	Weak transcription	Adipose Nuclei	Adipose
37	chr2:39202000-39211400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:39202000-39212600	Weak transcription	Ovary	ovary
39	chr2:39202000-39218800	Weak transcription	Brain Substantia Nigra	brain
40	chr2:39202000-39221800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:39202200-39206800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:39202200-39210400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:39202200-39210800	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:39202200-39212600	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:39202400-39210800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:39202400-39225600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:39202400-39228800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:39202800-39217000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:39203000-39207600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:39203600-39212000	Weak transcription	Lung	lung

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