Variant report

Variant	rs57485117
Chromosome Location	chr11:46803700-46803701
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46798348..46800815-chr11:46802877..46805320,2	MCF-7	breast:
2	chr11:46802857..46804523-chr11:46805186..46807970,2	K562	blood:

Variant related genes	Relation type
ENSG00000175216	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10466476	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10466477	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838634	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038985	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038987	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039012	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039015	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607429	1.00[ASN][1000 genomes]
rs11822959	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824327	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825434	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273360	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277006	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281784	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12287376	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294921	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938534	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787930	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2867206	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136433	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136434	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136436	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136439	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136443	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136446	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136448	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136467	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136468	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136469	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136472	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136478	0.88[AFR][1000 genomes]
rs3136480	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136481	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136482	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136485	0.84[AFR][1000 genomes]
rs3136487	0.82[EUR][1000 genomes]
rs3136489	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136496	0.83[EUR][1000 genomes]
rs3136500	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136504	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136521	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128315	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500447	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56311746	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56331152	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57368576	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5898	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59197251	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60940896	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61382645	0.86[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	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884297	1.00[ASN][1000 genomes]
rs61884303	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884304	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884305	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884306	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884307	1.00[ASN][1000 genomes]
rs61897302	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897303	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897304	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897308	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61898529	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61898531	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61899280	1.00[ASN][1000 genomes]
rs61899282	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61899283	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61899292	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6485700	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6485706	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102325	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102474	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105052	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105172	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105217	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106323	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108147	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111760	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111811	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112060	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112518	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115986	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118097	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120113	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123729	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128102	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129622	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73456126	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928445	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938960	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945548	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9667108	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9735937	0.89[AFR][1000 genomes];0.98[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	chr11:46762600-46804000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:46762600-46826000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:46762600-46841400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:46762800-46804800	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:46762800-46835600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:46762800-46842400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:46763400-46839600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:46770200-46818200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:46778800-46841200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:46779400-46824600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:46780600-46814000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:46782600-46847400	Weak transcription	Stomach Mucosa	stomach
16	chr11:46784000-46804000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:46785800-46807800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:46786000-46809600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:46787000-46828200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:46787800-46824600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:46788000-46826200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:46788200-46825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:46788200-46841400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:46788600-46824200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:46788600-46840600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:46788800-46824000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:46792000-46805800	Weak transcription	Small Intestine	intestine
28	chr11:46795200-46820400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:46796200-46807400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:46796400-46821400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:46796400-46824600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:46796600-46808000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:46796600-46825800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:46796800-46804200	Strong transcription	Thymus	Thymus
35	chr11:46796800-46805200	Strong transcription	Fetal Kidney	kidney
36	chr11:46796800-46805200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr11:46796800-46806400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr11:46796800-46806600	Strong transcription	Liver	Liver
39	chr11:46796800-46806600	Strong transcription	HSMM	muscle
40	chr11:46796800-46808200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:46796800-46819600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:46796800-46820600	Strong transcription	Fetal Brain Female	brain
43	chr11:46796800-46820800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:46796800-46823800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr11:46796800-46824000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:46796800-46824200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:46796800-46824200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:46796800-46824400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:46796800-46824400	Strong transcription	Brain Germinal Matrix	brain
50	chr11:46796800-46824600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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