Variant report

Variant	rs12285344
Chromosome Location	chr11:86306401-86306402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86299094..86301752-chr11:86305764..86307312,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10501626	0.85[ASN][1000 genomes]
rs12281596	0.80[ASW][hapmap]
rs12573953	0.81[ASN][1000 genomes]
rs12575285	0.85[ASN][1000 genomes]
rs17211458	0.86[ASN][1000 genomes]
rs17211563	0.85[ASN][1000 genomes]
rs17211584	0.84[ASN][1000 genomes]
rs17818784	0.85[ASN][1000 genomes]
rs17819523	0.85[ASN][1000 genomes]
rs17819683	0.85[ASN][1000 genomes]
rs1945142	0.85[ASN][1000 genomes]
rs2226566	0.85[ASN][1000 genomes]
rs471780	0.85[ASN][1000 genomes]
rs539214	0.85[ASN][1000 genomes]
rs56140354	0.85[ASN][1000 genomes]
rs56935647	0.86[ASN][1000 genomes]
rs581796	0.85[ASN][1000 genomes]
rs60229086	0.81[ASN][1000 genomes]
rs623785	0.82[ASN][1000 genomes]
rs659301	0.86[ASN][1000 genomes]
rs66909667	0.85[ASN][1000 genomes]
rs67112634	0.85[ASN][1000 genomes]
rs687138	0.85[ASN][1000 genomes]
rs72955481	0.83[ASN][1000 genomes]
rs72957414	0.85[ASN][1000 genomes]
rs72957420	0.85[ASN][1000 genomes]
rs72957437	0.84[ASN][1000 genomes]
rs72957439	0.84[ASN][1000 genomes]
rs72957441	0.84[ASN][1000 genomes]
rs72957457	0.81[ASN][1000 genomes]
rs72959410	0.81[ASN][1000 genomes]
rs7480835	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3463753	chr11:86302304-86308102	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv11399	chr11:86303268-86306521	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv8852	chr11:86303499-86306788	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv826012	chr11:86303668-86306764	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv826014	chr11:86303714-86306764	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv826016	chr11:86303746-86306764	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3463764	chr11:86303900-86306838	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3463786	chr11:86304096-86306667	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3463742	chr11:86304151-86306633	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv471754	chr11:86304157-86306620	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3463731	chr11:86304164-86306586	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3463719	chr11:86304172-86306632	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv826022	chr11:86304193-86306853	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv4749	chr11:86304194-86306644	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv819492	chr11:86304212-86307059	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3463775	chr11:86304217-86306563	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3463797	chr11:86304231-86306559	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv1826791	chr11:86304402-86306401	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv1830513	chr11:86304402-86306401	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv1831203	chr11:86304402-86306401	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv1831954	chr11:86304402-86306401	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv1832469	chr11:86304402-86306401	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv2829955	chr11:86304402-86306401	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv2830218	chr11:86304402-86306401	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv3693095	chr11:86304402-86306401	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv555686	chr11:86304402-86306401	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv555693	chr11:86304732-86306401	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv555694	chr11:86304732-86307016	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv16135	chr11:86305189-86306521	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv555703	chr11:86305676-86307016	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv898057	chr11:86306401-86335459	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86297400-86308000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:86298000-86307000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:86298200-86307400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:86300200-86308200	Weak transcription	Fetal Brain Male	brain
5	chr11:86300200-86318800	Weak transcription	Esophagus	oesophagus
6	chr11:86300800-86308800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:86301600-86307000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:86302200-86309000	Enhancers	HUVEC	blood vessel
9	chr11:86302400-86306600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr11:86302400-86306800	Enhancers	HMEC	breast
11	chr11:86302600-86307000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:86303000-86306800	Enhancers	NHDF-Ad	bronchial
13	chr11:86303000-86307000	Enhancers	NHEK	skin
14	chr11:86303200-86306600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr11:86303200-86306800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:86303600-86307200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr11:86304000-86306600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:86304000-86306600	Weak transcription	Fetal Intestine Large	intestine
19	chr11:86304000-86306600	Weak transcription	Fetal Intestine Small	intestine
20	chr11:86304200-86306600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:86304200-86306600	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:86304200-86306600	Weak transcription	Pancreas	Pancrea
23	chr11:86304200-86306600	Weak transcription	Psoas Muscle	Psoas
24	chr11:86304200-86308000	Weak transcription	Aorta	Aorta
25	chr11:86304200-86308000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:86304200-86308200	Weak transcription	Fetal Stomach	stomach
27	chr11:86304400-86306600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:86304400-86306600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:86304400-86306600	Weak transcription	Lung	lung
30	chr11:86304400-86306600	Weak transcription	Right Atrium	heart
31	chr11:86304400-86306600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:86304400-86306600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:86304400-86306600	Weak transcription	Spleen	Spleen
34	chr11:86304400-86306800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr11:86304400-86307800	Weak transcription	Adipose Nuclei	Adipose
36	chr11:86304400-86307800	Weak transcription	Ovary	ovary
37	chr11:86304400-86308000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:86304400-86308000	Weak transcription	Right Ventricle	heart
39	chr11:86304400-86308200	Weak transcription	Fetal Lung	lung
40	chr11:86304400-86308400	Weak transcription	Brain Anterior Caudate	brain
41	chr11:86304400-86309000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:86304600-86307600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:86304600-86307800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:86304600-86307800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:86304600-86308000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr11:86304600-86308000	Weak transcription	Fetal Heart	heart
47	chr11:86304600-86308000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr11:86304600-86308000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:86304600-86308200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:86304600-86308200	Weak transcription	Colon Smooth Muscle	Colon

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