Variant report

Variant	rs1149620
Chromosome Location	chr11:76506572-76506573
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:76506483-76508108	A549	lung:	n/a	n/a
2	POLR2A	chr11:76506550-76507663	A549	lung:	n/a	n/a
3	POLR2A	chr11:76503730-76515774	A549	lung:	n/a	n/a
4	POLR2A	chr11:76506490-76508118	A549	lung:	n/a	n/a
5	MAX	chr11:76506477-76507448	A549	lung:	n/a	n/a
6	POLR2A	chr11:76506498-76508114	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:76504803..76506935-chr11:76570633..76574402,3	MCF-7	breast:
2	chr11:76504410..76507803-chr11:76511412..76514048,3	MCF-7	breast:
3	chr11:76505701..76507573-chr11:76519620..76521657,2	MCF-7	breast:
4	chr11:76485960..76487804-chr11:76505414..76507277,2	K562	blood:
5	chr11:76504952..76506827-chr11:76516420..76519216,2	MCF-7	breast:
6	chr11:76504723..76506635-chr11:76511764..76514522,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261578	TF binding region
ENSG00000078124	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1149595	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs1149611	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs1149613	0.84[EUR][1000 genomes]
rs1224953	0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897931	chr11:76489673-76540708	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1149620	RP11-672A2.1	cis	Adipose Subcutaneous	GTEx
rs1149620	RP11-21L23.4	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76496000-76506800	Weak transcription	Aorta	Aorta
2	chr11:76496200-76513800	Weak transcription	Fetal Kidney	kidney
3	chr11:76496600-76509800	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:76496800-76507400	Enhancers	Stomach Mucosa	stomach
5	chr11:76496800-76510000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:76499000-76510200	Weak transcription	Thymus	Thymus
7	chr11:76500400-76509800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:76500400-76510000	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:76500800-76510000	Weak transcription	Brain Substantia Nigra	brain
10	chr11:76503200-76506600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:76503400-76509400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:76503400-76510000	Weak transcription	K562	blood
13	chr11:76503600-76506600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:76504000-76506800	Enhancers	Duodenum Mucosa	Duodenum
15	chr11:76504000-76507400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:76504200-76507600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:76504200-76510000	Genic enhancers	Esophagus	oesophagus
18	chr11:76504200-76510000	Genic enhancers	Fetal Intestine Small	intestine
19	chr11:76504200-76510200	Weak transcription	HSMMtube	muscle
20	chr11:76504400-76506600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:76504400-76508800	Genic enhancers	Liver	Liver
22	chr11:76504400-76509400	Weak transcription	Small Intestine	intestine
23	chr11:76504600-76506800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:76504600-76506800	Weak transcription	Hela-S3	cervix
25	chr11:76504600-76509800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:76504600-76510000	Weak transcription	Brain Anterior Caudate	brain
27	chr11:76504600-76510000	Weak transcription	Dnd41	blood
28	chr11:76504600-76510000	Weak transcription	HUVEC	blood vessel
29	chr11:76504600-76510000	Weak transcription	NHDF-Ad	bronchial
30	chr11:76504800-76510000	Weak transcription	HSMM	muscle
31	chr11:76505000-76506600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:76505000-76509600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:76505000-76509800	Weak transcription	Fetal Brain Male	brain
34	chr11:76505200-76506800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:76505200-76506800	Weak transcription	Left Ventricle	heart
36	chr11:76505200-76507000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr11:76505200-76509800	Strong transcription	Fetal Stomach	stomach
38	chr11:76505200-76510000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr11:76505200-76510800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:76505400-76506600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:76505400-76506600	Weak transcription	Brain Germinal Matrix	brain
42	chr11:76505400-76506600	Weak transcription	Pancreas	Pancrea
43	chr11:76505400-76506800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:76505400-76506800	Weak transcription	Ovary	ovary
45	chr11:76505400-76507000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:76505400-76507000	Weak transcription	Osteobl	bone
47	chr11:76505400-76509200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:76505400-76509200	Strong transcription	HMEC	breast
49	chr11:76505400-76509400	Weak transcription	Fetal Heart	heart
50	chr11:76505400-76509600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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