Variant report

Variant	rs10238838
Chromosome Location	chr7:111849719-111849720
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	chr7:111845162..111847628-chr7:111849492..111851037,2	K562	blood:

Variant related genes	Relation type
ENSG00000198839	Chromatin interaction
ENSG00000128512	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1007587	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1014725	1.00[EUR][1000 genomes]
rs10215841	0.86[EUR][1000 genomes]
rs10225540	1.00[EUR][1000 genomes]
rs10226613	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs10227934	1.00[EUR][1000 genomes]
rs10229525	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10229822	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10229978	1.00[EUR][1000 genomes]
rs10230608	1.00[EUR][1000 genomes]
rs10232364	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10232380	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10234035	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10234996	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10235364	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238839	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10239076	1.00[EUR][1000 genomes]
rs10244575	1.00[EUR][1000 genomes]
rs10246054	1.00[EUR][1000 genomes]
rs10248923	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249330	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10249953	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10251712	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10252768	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253360	1.00[EUR][1000 genomes]
rs10254160	0.87[EUR][1000 genomes]
rs10257492	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10257831	1.00[EUR][1000 genomes]
rs10257850	0.86[EUR][1000 genomes]
rs10258413	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10259763	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10262723	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10263624	1.00[EUR][1000 genomes]
rs10264118	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10264797	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10266828	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10269074	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10270151	1.00[EUR][1000 genomes]
rs10273461	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10275709	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10276062	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10276695	1.00[EUR][1000 genomes]
rs10276868	1.00[EUR][1000 genomes]
rs10276907	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10277444	1.00[EUR][1000 genomes]
rs10278528	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278642	1.00[EUR][1000 genomes]
rs10278883	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10280408	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10487289	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12333548	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13437769	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13437855	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13438058	1.00[EUR][1000 genomes]
rs13438257	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159423	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17159431	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17159432	1.00[EUR][1000 genomes]
rs17159440	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17159444	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17159475	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159531	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17159611	1.00[EUR][1000 genomes]
rs1989940	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2040726	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2214434	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2396525	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2396534	1.00[EUR][1000 genomes]
rs2396535	1.00[EUR][1000 genomes]
rs28402908	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28407071	1.00[EUR][1000 genomes]
rs28490504	1.00[EUR][1000 genomes]
rs28516940	1.00[EUR][1000 genomes]
rs28563007	1.00[EUR][1000 genomes]
rs28566952	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28594984	1.00[EUR][1000 genomes]
rs28602472	1.00[EUR][1000 genomes]
rs28654705	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28712358	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28718033	1.00[EUR][1000 genomes]
rs28797808	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4321927	0.86[EUR][1000 genomes]
rs4392819	1.00[CEU][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4727767	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4727768	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4727769	1.00[EUR][1000 genomes]
rs4730514	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730515	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730521	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4730523	1.00[EUR][1000 genomes]
rs4730525	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4730526	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4730527	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730528	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4730530	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4730531	1.00[CEU][hapmap]
rs4730534	1.00[EUR][1000 genomes]
rs4730535	1.00[EUR][1000 genomes]
rs4730537	1.00[EUR][1000 genomes]
rs4730538	1.00[EUR][1000 genomes]
rs4730545	0.86[EUR][1000 genomes]
rs4730546	0.86[EUR][1000 genomes]
rs57771476	1.00[EUR][1000 genomes]
rs58514081	1.00[EUR][1000 genomes]
rs60046006	0.86[EUR][1000 genomes]
rs60677549	1.00[EUR][1000 genomes]
rs6943924	0.87[EUR][1000 genomes]
rs6948649	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6950339	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6950367	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6954131	1.00[EUR][1000 genomes]
rs6965959	0.87[EUR][1000 genomes]
rs6973251	0.87[EUR][1000 genomes]
rs6975374	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6977315	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs726422	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73424453	1.00[EUR][1000 genomes]
rs7783041	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9986709	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111847400-111861800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:111847600-111850600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:111847600-111851200	Weak transcription	Ovary	ovary
4	chr7:111847600-111851200	Weak transcription	Right Ventricle	heart
5	chr7:111847600-111851200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr7:111847600-111851400	Weak transcription	Pancreas	Pancrea
7	chr7:111847600-111851400	Weak transcription	Psoas Muscle	Psoas
8	chr7:111847600-111851400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:111847600-111851400	Weak transcription	HSMMtube	muscle
10	chr7:111847600-111852400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:111847600-111852800	Weak transcription	Left Ventricle	heart
12	chr7:111847600-111854400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:111847600-111855200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:111847600-111855400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:111847600-111857800	Weak transcription	Placenta	Placenta
16	chr7:111847600-111861000	Weak transcription	Lung	lung
17	chr7:111847600-111863400	Weak transcription	Gastric	stomach
18	chr7:111847600-111864600	Weak transcription	Colonic Mucosa	Colon
19	chr7:111847600-111866200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:111847600-111878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:111847800-111850800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:111847800-111851200	Weak transcription	Fetal Intestine Small	intestine
23	chr7:111847800-111851200	Weak transcription	Stomach Mucosa	stomach
24	chr7:111847800-111851200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:111847800-111851200	Weak transcription	NHLF	lung
26	chr7:111847800-111851400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:111847800-111851400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:111847800-111851400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:111847800-111851400	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:111847800-111851400	Weak transcription	Osteobl	bone
31	chr7:111847800-111851600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:111847800-111851600	Weak transcription	Fetal Kidney	kidney
33	chr7:111847800-111851800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:111847800-111855400	Weak transcription	Brain Anterior Caudate	brain
35	chr7:111847800-111855400	Weak transcription	Right Atrium	heart
36	chr7:111847800-111865000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:111847800-111865600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:111847800-111866800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:111847800-111869800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:111848000-111850800	Weak transcription	A549	lung
41	chr7:111848000-111851000	Weak transcription	Fetal Heart	heart
42	chr7:111848000-111851200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:111848000-111851200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:111848000-111851200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:111848000-111851200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr7:111848000-111851200	Weak transcription	Fetal Lung	lung
47	chr7:111848000-111851400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:111848000-111851400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:111848000-111851400	Weak transcription	Small Intestine	intestine
50	chr7:111848000-111851400	Weak transcription	NHDF-Ad	bronchial

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