Variant report

Variant	rs623338
Chromosome Location	chr11:75204236-75204237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75203200..75205117-chr11:75206279..75208422,2	MCF-7	breast:
2	chr11:75186423..75188493-chr11:75202325..75205145,2	K562	blood:
3	chr11:75202940..75204464-chr11:75209500..75211854,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1004856	0.81[YRI][hapmap];0.88[AFR][1000 genomes]
rs10751243	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236441	0.84[AFR][1000 genomes]
rs1557474	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1623440	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs1631470	0.82[YRI][hapmap]
rs1631865	0.95[CEU][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1790145	0.95[CEU][hapmap];0.94[JPT][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1790149	1.00[CEU][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1790153	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1790154	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1790155	1.00[CEU][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1790156	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1790158	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1790160	0.85[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1793396	0.83[JPT][hapmap]
rs1793398	0.87[JPT][hapmap]
rs1793411	0.95[CEU][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1793412	0.95[CEU][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1793414	0.85[YRI][hapmap];0.89[AFR][1000 genomes]
rs1793415	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1894213	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs471857	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs473462	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs474056	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs482458	0.85[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs482503	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs486326	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs488305	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs492309	0.83[EUR][1000 genomes]
rs504685	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs518611	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs523617	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs532454	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs535520	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs535523	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs546632	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs547844	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs550957	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs578840	0.85[CEU][hapmap]
rs609793	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs611449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs625938	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs628972	0.88[YRI][hapmap];0.90[AFR][1000 genomes]
rs653673	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs668727	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7125082	0.80[JPT][hapmap]

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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75190400-75207400	Weak transcription	Fetal Stomach	stomach
2	chr11:75199400-75207000	Weak transcription	Adipose Nuclei	Adipose
3	chr11:75199400-75209800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:75200000-75219600	Weak transcription	Fetal Brain Female	brain
5	chr11:75201400-75207000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:75201800-75204400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:75201800-75206800	Weak transcription	HepG2	liver
8	chr11:75202000-75207000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:75202000-75207000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:75202200-75207000	Weak transcription	HSMMtube	muscle
11	chr11:75202200-75207200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:75202200-75208800	Weak transcription	HSMM	muscle
13	chr11:75202400-75210000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:75202600-75206800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:75202600-75207000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:75203000-75204400	Enhancers	Spleen	Spleen
17	chr11:75203200-75204800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:75203400-75204600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr11:75203400-75205600	Strong transcription	Fetal Intestine Small	intestine
20	chr11:75203400-75207000	Weak transcription	Psoas Muscle	Psoas
21	chr11:75203600-75204800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr11:75203600-75206600	Weak transcription	A549	lung
23	chr11:75203600-75206800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:75203600-75206800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:75203600-75206800	Weak transcription	Placenta	Placenta
26	chr11:75203600-75206800	Weak transcription	Lung	lung
27	chr11:75203600-75207000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:75203600-75207200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:75203600-75207200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:75203600-75209000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:75203800-75204400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:75203800-75206800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:75203800-75206800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:75203800-75206800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:75203800-75207000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:75203800-75207000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:75203800-75207000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:75203800-75207200	Weak transcription	HUVEC	blood vessel
39	chr11:75203800-75208200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:75203800-75208800	Weak transcription	Hela-S3	cervix
41	chr11:75203800-75209200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:75203800-75209200	Weak transcription	HMEC	breast
43	chr11:75203800-75209800	Weak transcription	K562	blood
44	chr11:75203800-75210800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr11:75203800-75210800	Weak transcription	Colonic Mucosa	Colon
46	chr11:75203800-75217800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:75203800-75219200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:75204000-75216600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:75204200-75204400	Enhancers	Fetal Brain Male	brain
50	chr11:75204200-75213400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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