Variant report

Variant	rs550957
Chromosome Location	chr11:75202936-75202937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75189305..75191743-chr11:75201483..75203420,3	K562	blood:
2	chr11:75186423..75188493-chr11:75202325..75205145,2	K562	blood:

Variant related genes	Relation type
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1004856	0.88[AFR][1000 genomes]
rs10751243	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11236441	0.84[AFR][1000 genomes]
rs1557474	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1623440	0.86[EUR][1000 genomes]
rs1631865	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1790145	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1790149	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1790153	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1790154	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1790155	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1790156	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1790158	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1790160	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1793411	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1793412	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1793414	0.89[AFR][1000 genomes]
rs1793415	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1894213	0.84[EUR][1000 genomes]
rs471857	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs473462	0.85[EUR][1000 genomes]
rs474056	0.84[EUR][1000 genomes]
rs482458	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs482503	0.85[EUR][1000 genomes]
rs486326	0.84[EUR][1000 genomes]
rs488305	0.83[EUR][1000 genomes]
rs492309	0.83[EUR][1000 genomes]
rs504685	0.83[EUR][1000 genomes]
rs518611	0.84[EUR][1000 genomes]
rs523617	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs532454	0.83[EUR][1000 genomes]
rs535520	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs535523	0.85[EUR][1000 genomes]
rs546632	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs547844	0.85[EUR][1000 genomes]
rs609793	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs611449	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs623338	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs625938	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs628972	0.90[AFR][1000 genomes]
rs653673	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668727	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv825996	chr11:75195626-75203332	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75187200-75203000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:75187400-75203000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:75190400-75207400	Weak transcription	Fetal Stomach	stomach
4	chr11:75193000-75203200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:75193800-75203200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr11:75194000-75203000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:75194600-75203000	Weak transcription	Lung	lung
8	chr11:75198200-75203000	Weak transcription	Hela-S3	cervix
9	chr11:75198600-75203600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:75199400-75207000	Weak transcription	Adipose Nuclei	Adipose
11	chr11:75199400-75209800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:75200000-75219600	Weak transcription	Fetal Brain Female	brain
13	chr11:75200200-75203200	Weak transcription	Psoas Muscle	Psoas
14	chr11:75201000-75203000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr11:75201000-75203600	Enhancers	Placenta	Placenta
16	chr11:75201000-75203800	Enhancers	HMEC	breast
17	chr11:75201000-75203800	Enhancers	HUVEC	blood vessel
18	chr11:75201200-75203600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:75201200-75203600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:75201200-75203600	Enhancers	A549	lung
21	chr11:75201200-75203800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr11:75201200-75203800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:75201400-75203400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:75201400-75203600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:75201400-75203800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr11:75201400-75203800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:75201400-75203800	Enhancers	NHEK	skin
28	chr11:75201400-75207000	Weak transcription	Fetal Intestine Large	intestine
29	chr11:75201600-75203000	Weak transcription	Spleen	Spleen
30	chr11:75201600-75203800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:75201600-75204000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:75201800-75203200	Weak transcription	Esophagus	oesophagus
33	chr11:75201800-75204400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:75201800-75206800	Weak transcription	HepG2	liver
35	chr11:75202000-75203000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:75202000-75203200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:75202000-75203200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:75202000-75203800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:75202000-75207000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:75202000-75207000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:75202200-75203000	Weak transcription	K562	blood
42	chr11:75202200-75203200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:75202200-75203400	Genic enhancers	Fetal Intestine Small	intestine
44	chr11:75202200-75203800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr11:75202200-75203800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr11:75202200-75207000	Weak transcription	HSMMtube	muscle
47	chr11:75202200-75207200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:75202200-75208800	Weak transcription	HSMM	muscle
49	chr11:75202400-75203400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr11:75202400-75203800	Enhancers	Primary T cells fromperipheralblood	blood

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