Variant report

Variant	rs12269891
Chromosome Location	chr11:75132264-75132265
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75118966..75120738-chr11:75128786..75133119,4	MCF-7	breast:
2	chr11:75124911..75127716-chr11:75131306..75134376,3	K562	blood:
3	chr11:75113711..75115668-chr11:75131699..75133663,2	K562	blood:
4	chr11:75130108..75132888-chr11:75245908..75247630,2	K562	blood:
5	chr11:75109263..75112751-chr11:75131805..75136633,9	MCF-7	breast:
6	chr11:75122268..75124877-chr11:75130912..75134393,4	K562	blood:
7	chr11:75050045..75052977-chr11:75131615..75134854,3	MCF-7	breast:
8	chr11:75116817..75118910-chr11:75131557..75134243,2	K562	blood:
9	chr11:75130108..75133547-chr11:75244379..75247630,4	K562	blood:
10	chr11:75123123..75124877-chr11:75131812..75133921,2	K562	blood:
11	chr11:75110477..75113368-chr11:75131167..75133187,3	K562	blood:
12	chr11:75122124..75127716-chr11:75129624..75133072,6	MCF-7	breast:
13	chr11:75130424..75133176-chr11:75273053..75274675,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149257	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000207445	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10501422	1.00[YRI][hapmap]
rs12277045	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17133983	1.00[CEU][hapmap]
rs17882074	1.00[AMR][1000 genomes]
rs7933166	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv1799276	chr11:75104200-75135434	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
4	nsv897921	chr11:75115893-75147661	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897922	chr11:75116733-75147661	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	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
7	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75117000-75135200	Weak transcription	Right Ventricle	heart
2	chr11:75117400-75139000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:75118200-75139000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:75118200-75139600	Weak transcription	Small Intestine	intestine
5	chr11:75119400-75139800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:75120400-75134200	Weak transcription	Right Atrium	heart
7	chr11:75122800-75134800	Strong transcription	Thymus	Thymus
8	chr11:75122800-75135600	Strong transcription	Primary T cells from cord blood	blood
9	chr11:75123400-75138800	Weak transcription	Fetal Kidney	kidney
10	chr11:75123400-75140000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:75123600-75139000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:75125200-75132800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:75125200-75136200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:75125400-75132400	Weak transcription	Fetal Lung	lung
15	chr11:75125400-75133600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:75126200-75133000	Weak transcription	Adipose Nuclei	Adipose
17	chr11:75126200-75133600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:75126200-75133600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:75126200-75133800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:75126200-75139400	Weak transcription	Esophagus	oesophagus
21	chr11:75126400-75132400	Weak transcription	HepG2	liver
22	chr11:75126400-75133000	Weak transcription	Liver	Liver
23	chr11:75126400-75133400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr11:75126400-75133600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:75126400-75133600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:75126400-75133800	Weak transcription	Colonic Mucosa	Colon
27	chr11:75126400-75136400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:75126400-75138000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:75126400-75139400	Weak transcription	Ovary	ovary
30	chr11:75126400-75139600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:75126400-75140600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:75126600-75132400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:75126600-75138200	Weak transcription	Left Ventricle	heart
34	chr11:75126600-75139000	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:75126600-75139200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:75127200-75132400	Weak transcription	Primary B cells from cord blood	blood
37	chr11:75127400-75133400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:75127400-75133600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr11:75127400-75133600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:75127600-75135600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:75127600-75137400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr11:75128000-75138800	Weak transcription	GM12878-XiMat	blood
43	chr11:75128200-75132600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:75128200-75135600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:75128200-75138800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:75128400-75132400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:75128400-75132800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:75128400-75135200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:75129000-75133000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr11:75129200-75136400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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