Variant report

Variant	rs7105052
Chromosome Location	chr11:46808600-46808601
allele	C/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	chr11:46808520-46808909	K562	blood:	n/a	n/a
2	POLR2A	chr11:46808248-46808696	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:46808363-46808639	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
CKAP5	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10466476	1.00[CEU][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10466477	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838634	1.00[ASN][1000 genomes]
rs11038985	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038987	1.00[CEU][hapmap];0.97[YRI][hapmap];0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039012	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039015	1.00[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607429	1.00[ASN][1000 genomes]
rs11822959	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824327	0.88[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825434	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273360	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277006	0.88[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281784	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12287376	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294921	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938534	0.88[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787930	0.88[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2867206	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136433	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136434	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136436	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136439	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136443	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136446	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136448	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136467	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136468	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136469	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136472	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136478	1.00[YRI][hapmap]
rs3136480	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136481	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136482	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136485	0.97[YRI][hapmap]
rs3136489	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136496	0.81[EUR][1000 genomes]
rs3136500	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136504	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136521	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128315	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500447	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56311746	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56331152	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57368576	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57485117	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5898	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59197251	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60940896	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61382645	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882744	1.00[ASN][1000 genomes]
rs61882755	1.00[ASN][1000 genomes]
rs61884270	1.00[ASN][1000 genomes]
rs61884294	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884297	1.00[ASN][1000 genomes]
rs61884303	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884304	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884305	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884306	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884307	1.00[ASN][1000 genomes]
rs61897302	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897303	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897304	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897308	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61898529	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61898531	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61899280	1.00[ASN][1000 genomes]
rs61899282	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61899283	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61899292	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6485700	0.88[CEU][hapmap];0.96[YRI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6485706	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102325	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102474	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105172	1.00[ASN][1000 genomes]
rs7105217	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106323	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107703	0.82[EUR][1000 genomes]
rs7108147	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111760	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111811	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112060	0.88[CEU][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112518	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115038	0.88[CEU][hapmap]
rs7115986	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118097	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120113	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122604	0.83[YRI][hapmap]
rs7123729	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128102	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129622	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73456126	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928445	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938960	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945548	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947517	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9667108	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9735937	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv3388509	chr11:46763105-46818814	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46761400-46840000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:46761400-46845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:46761600-46824600	Strong transcription	Fetal Thymus	thymus
4	chr11:46762600-46826000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:46762600-46841400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:46762800-46835600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:46762800-46842400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:46763400-46839600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:46770200-46818200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:46778800-46841200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:46779400-46824600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:46780600-46814000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:46782600-46847400	Weak transcription	Stomach Mucosa	stomach
14	chr11:46786000-46809600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:46787000-46828200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:46787800-46824600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:46788000-46826200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:46788200-46825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:46788200-46841400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:46788600-46824200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr11:46788600-46840600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:46788800-46824000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:46795200-46820400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:46796400-46821400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:46796400-46824600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:46796600-46825800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:46796800-46819600	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:46796800-46820600	Strong transcription	Fetal Brain Female	brain
29	chr11:46796800-46820800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:46796800-46823800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr11:46796800-46824000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:46796800-46824200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:46796800-46824200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr11:46796800-46824400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:46796800-46824400	Strong transcription	Brain Germinal Matrix	brain
36	chr11:46796800-46824600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:46797000-46821600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:46797000-46824200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:46797000-46825200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:46797200-46824200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:46797200-46824400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:46797200-46826000	Strong transcription	Dnd41	blood
43	chr11:46797400-46823800	Strong transcription	Osteobl	bone
44	chr11:46797400-46824400	Strong transcription	Placenta	Placenta
45	chr11:46797600-46815800	Strong transcription	HMEC	breast
46	chr11:46801400-46822800	Strong transcription	Primary B cells from cord blood	blood
47	chr11:46801600-46808800	Strong transcription	NHLF	lung
48	chr11:46802400-46809000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:46802600-46810600	Weak transcription	Psoas Muscle	Psoas
50	chr11:46803400-46815400	Strong transcription	NHDF-Ad	bronchial

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