Variant report

Variant	rs12576868
Chromosome Location	chr11:65872869-65872870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65836931..65839576-chr11:65872860..65876981,3	MCF-7	breast:
2	chr11:65837038..65840015-chr11:65872292..65873822,2	K562	blood:
3	chr11:65869303..65872952-chr11:65875129..65877577,3	K562	blood:

Variant related genes	Relation type
ENSG00000175115	Chromatin interaction
ENSG00000255038	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11227393	1.00[EUR][1000 genomes]
rs11227396	1.00[EUR][1000 genomes]
rs11227405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12575852	1.00[EUR][1000 genomes]
rs12576136	0.90[ASN][1000 genomes]
rs12577589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2139968	0.93[ASN][1000 genomes]
rs2298446	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35188698	1.00[EUR][1000 genomes]
rs3814743	1.00[EUR][1000 genomes]
rs471203	1.00[ASN][1000 genomes]
rs4930169	1.00[EUR][1000 genomes]
rs58244723	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7943794	1.00[EUR][1000 genomes]
rs9787882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65848400-65874200	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:65849200-65879600	Weak transcription	Aorta	Aorta
3	chr11:65851600-65882800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:65851800-65878800	Weak transcription	HSMM	muscle
5	chr11:65852000-65874000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:65859000-65873600	Weak transcription	Fetal Intestine Small	intestine
7	chr11:65863800-65880200	Weak transcription	Fetal Stomach	stomach
8	chr11:65868200-65874200	Weak transcription	HepG2	liver
9	chr11:65868400-65873400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:65868400-65873600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:65868400-65873800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:65868400-65873800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:65868400-65874000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:65868400-65874200	Weak transcription	NHDF-Ad	bronchial
15	chr11:65868400-65874400	Weak transcription	Left Ventricle	heart
16	chr11:65868400-65874600	Weak transcription	Lung	lung
17	chr11:65868400-65874600	Weak transcription	Psoas Muscle	Psoas
18	chr11:65868400-65874600	Weak transcription	Right Atrium	heart
19	chr11:65868400-65874600	Weak transcription	K562	blood
20	chr11:65868400-65878400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:65868400-65879200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:65868400-65879200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:65868400-65879400	Weak transcription	Esophagus	oesophagus
24	chr11:65868400-65879400	Weak transcription	Ovary	ovary
25	chr11:65868400-65879600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:65868400-65879600	Weak transcription	Fetal Brain Female	brain
27	chr11:65868400-65879600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:65868600-65879200	Weak transcription	Pancreas	Pancrea
29	chr11:65868600-65879400	Weak transcription	Small Intestine	intestine
30	chr11:65868600-65879600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:65868600-65879600	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:65868600-65893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:65868800-65874000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:65868800-65874200	Weak transcription	NHEK	skin
35	chr11:65868800-65886200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:65869000-65873400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr11:65869000-65878000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:65869000-65882800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:65869200-65873200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr11:65869200-65874400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:65869200-65874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:65869200-65874600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr11:65869200-65874600	Weak transcription	Spleen	Spleen
44	chr11:65869200-65876800	Weak transcription	Stomach Mucosa	stomach
45	chr11:65869200-65877000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:65869200-65877400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr11:65869200-65879600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr11:65869400-65873400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:65869400-65873600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr11:65869400-65873600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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