Variant report

Variant	rs2513238
Chromosome Location	chr11:86781005-86781006
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:86780932-86781084	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86779436..86781916-chr11:86820681..86823632,2	K562	blood:

Variant related genes	Relation type
TMEM135	TF binding region

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1031584	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs11234939	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11234951	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12280110	0.85[CHB][hapmap]
rs1531145	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545600	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2001411	0.81[CHB][hapmap]
rs2048973	0.85[CHB][hapmap]
rs2124581	0.88[JPT][hapmap]
rs2374995	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2445534	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2445536	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445571	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2445572	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445587	0.86[AMR][1000 genomes]
rs2451053	0.85[CHB][hapmap]
rs2451060	0.81[CHB][hapmap]
rs2512327	0.88[JPT][hapmap]
rs2512344	0.86[CHB][hapmap]
rs2512350	0.85[CHB][hapmap]
rs2512352	0.88[JPT][hapmap]
rs2512353	0.88[JPT][hapmap]
rs2512358	0.82[CHB][hapmap]
rs2512360	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512362	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512374	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512375	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512376	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512377	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512381	0.88[JPT][hapmap]
rs2512382	0.88[JPT][hapmap]
rs2512390	0.88[JPT][hapmap]
rs2512398	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512485	0.82[CHB][hapmap]
rs2512488	0.88[JPT][hapmap]
rs2512490	0.86[CHB][hapmap]
rs2512503	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2513207	0.88[JPT][hapmap]
rs2513211	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513228	0.82[CHB][hapmap]
rs2513235	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513237	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs3100849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3100851	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133315	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4514445	0.80[ASN][1000 genomes]
rs482339	0.85[CHB][hapmap]
rs483373	0.85[CHB][hapmap]
rs491895	0.85[CHB][hapmap]
rs492211	0.86[CHB][hapmap]
rs4943971	0.82[CHB][hapmap]
rs4944661	0.80[ASN][1000 genomes]
rs494698	0.86[CHB][hapmap]
rs495668	0.85[CHB][hapmap]
rs496671	0.85[CHB][hapmap]
rs502580	0.86[CHB][hapmap]
rs5028348	0.85[CHB][hapmap]
rs520755	0.86[CHB][hapmap]
rs538494	0.88[CHB][hapmap]
rs541998	0.86[CHB][hapmap]
rs546229	0.85[CHB][hapmap]
rs547867	0.86[CHB][hapmap]
rs549932	0.85[CHB][hapmap]
rs550988	0.86[CHB][hapmap]
rs552521	0.85[CHB][hapmap]
rs556139	0.85[CHB][hapmap]
rs564877	0.90[CHB][hapmap]
rs566046	0.85[CHB][hapmap]
rs576582	0.85[CHB][hapmap]
rs576679	0.86[CHB][hapmap]
rs580120	0.85[CHB][hapmap]
rs583334	0.86[CHB][hapmap]
rs597319	0.85[CHB][hapmap]
rs597344	0.86[CHB][hapmap]
rs597406	0.86[CHB][hapmap]
rs603140	0.85[CHB][hapmap]
rs604035	0.85[CHB][hapmap]
rs606284	0.85[CHB][hapmap]
rs606299	0.86[CHB][hapmap]
rs608870	0.85[CHB][hapmap]
rs610228	0.86[CHB][hapmap]
rs611523	0.85[CHB][hapmap]
rs618926	0.85[CHB][hapmap]
rs625554	0.85[CHB][hapmap]
rs628447	0.86[CHB][hapmap]
rs634277	0.86[CHB][hapmap]
rs652171	0.81[CHB][hapmap]
rs655050	0.85[CHB][hapmap]
rs655907	0.85[CHB][hapmap]
rs660246	0.86[CHB][hapmap]
rs664398	0.86[CHB][hapmap]
rs687244	0.86[CHB][hapmap]
rs687651	0.86[CHB][hapmap]
rs692857	0.85[CHB][hapmap]
rs717722	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949665	0.85[CHB][hapmap]
rs989689	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898058	chr11:86754948-86889284	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv898059	chr11:86754948-86949369	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv1844274	chr11:86776992-86872908	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86750800-86782000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:86750800-86787400	Weak transcription	A549	lung
3	chr11:86751000-86786800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:86751000-86787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:86751200-86785600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:86751400-86786400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:86751600-86787000	Weak transcription	Aorta	Aorta
8	chr11:86756400-86782800	Weak transcription	Fetal Intestine Small	intestine
9	chr11:86758200-86783200	Weak transcription	Primary T cells from cord blood	blood
10	chr11:86758200-86786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:86767800-86782800	Weak transcription	Left Ventricle	heart
12	chr11:86769000-86786400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:86769200-86786400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:86769200-86786800	Weak transcription	Brain Anterior Caudate	brain
15	chr11:86769200-86791200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:86769200-86792400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:86769600-86784800	Weak transcription	Ovary	ovary
18	chr11:86769600-86786600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:86770200-86784200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:86770400-86808200	Weak transcription	HUVEC	blood vessel
21	chr11:86771000-86786600	Weak transcription	Fetal Brain Male	brain
22	chr11:86771200-86786800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:86771800-86786000	Weak transcription	Fetal Lung	lung
24	chr11:86773000-86783000	Weak transcription	NHDF-Ad	bronchial
25	chr11:86773000-86790800	Weak transcription	NHLF	lung
26	chr11:86773000-86792000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:86774200-86782800	Weak transcription	Fetal Stomach	stomach
28	chr11:86774600-86792400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:86774800-86786400	Weak transcription	Lung	lung
30	chr11:86774800-86786800	Weak transcription	Pancreas	Pancrea
31	chr11:86774800-86786800	Weak transcription	Right Ventricle	heart
32	chr11:86774800-86787600	Weak transcription	NHEK	skin
33	chr11:86774800-86806400	Weak transcription	Small Intestine	intestine
34	chr11:86775000-86786600	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:86775600-86786400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:86775600-86791400	Weak transcription	HSMM	muscle
37	chr11:86776200-86787000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr11:86776400-86786000	Weak transcription	Fetal Thymus	thymus
39	chr11:86776400-86792400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:86776600-86786600	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:86776600-86793000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:86776600-86815600	Weak transcription	HSMMtube	muscle
43	chr11:86776800-86783600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:86777000-86785600	Weak transcription	Dnd41	blood
45	chr11:86777000-86787000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:86777200-86786400	Weak transcription	Fetal Intestine Large	intestine
47	chr11:86777200-86786600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:86777400-86786600	Weak transcription	HMEC	breast
49	chr11:86777400-86786800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:86777400-86787600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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