Variant report

Variant	rs954446
Chromosome Location	chr11:75198280-75198281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75196940..75199795-chr11:75215143..75217908,2	K562	blood:
2	chr11:75139447..75142443-chr11:75197047..75198712,2	MCF-7	breast:
3	chr11:75191759..75194523-chr11:75195624..75199123,4	K562	blood:

Variant related genes	Relation type
ENSG00000149243	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12271529	1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282574	1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12576703	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1894211	1.00[EUR][1000 genomes]
rs1894212	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2276442	1.00[EUR][1000 genomes]
rs61897413	0.86[AFR][1000 genomes]
rs7125082	0.82[AFR][1000 genomes]
rs73494848	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	esv2757452	chr11:75198280-75201091	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv2759838	chr11:75198280-75201091	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75187000-75201400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:75187200-75201200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:75187200-75203000	Weak transcription	Primary T cells from cord blood	blood
4	chr11:75187400-75202800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:75187400-75202800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:75187400-75202800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:75187400-75203000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:75187600-75201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:75187600-75202000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:75187800-75201000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:75188000-75201600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:75188200-75200400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:75188400-75201200	Weak transcription	HSMM	muscle
14	chr11:75188400-75201400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:75188400-75201400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:75188400-75201600	Weak transcription	HSMMtube	muscle
17	chr11:75188600-75201600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr11:75190400-75199000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:75190400-75199200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:75190400-75207400	Weak transcription	Fetal Stomach	stomach
21	chr11:75190800-75201600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:75192200-75202800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:75193000-75203200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:75193800-75203200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:75194000-75203000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:75194600-75203000	Weak transcription	Lung	lung
27	chr11:75194800-75198600	Weak transcription	Adipose Nuclei	Adipose
28	chr11:75195000-75201200	Weak transcription	Spleen	Spleen
29	chr11:75196400-75202200	Strong transcription	Fetal Intestine Small	intestine
30	chr11:75196800-75199000	Weak transcription	HepG2	liver
31	chr11:75197800-75201400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:75197800-75201600	Enhancers	Brain Germinal Matrix	brain
33	chr11:75198000-75201000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:75198200-75198400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:75198200-75198600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr11:75198200-75198800	Weak transcription	Placenta	Placenta
37	chr11:75198200-75199000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:75198200-75201400	Strong transcription	Fetal Intestine Large	intestine
39	chr11:75198200-75203000	Weak transcription	Hela-S3	cervix

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