Variant report

Variant	rs7514211
Chromosome Location	chr1:84899282-84899283
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84606627..84607493-chr1:84899132..84900125,4	MCF-7	breast:
2	chr1:84888633..84891010-chr1:84899091..84900892,2	K562	blood:
3	chr1:84894566..84897091-chr1:84898003..84900258,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11163977	0.93[GIH][hapmap]
rs11163983	0.93[GIH][hapmap]
rs11163984	0.93[GIH][hapmap]
rs1340596	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754275	0.85[EUR][1000 genomes]
rs6576706	1.00[ASN][1000 genomes]
rs9432820	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer 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	esv13604	chr1:84895834-84899546	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84893400-84902400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:84895800-84899400	Weak transcription	Aorta	Aorta
3	chr1:84898400-84903000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:84898800-84899600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:84898800-84899800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:84899000-84899400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:84899000-84899400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:84899000-84899400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr1:84899000-84899400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr1:84899000-84899400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:84899000-84899400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:84899000-84899400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr1:84899000-84899400	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr1:84899000-84899400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:84899000-84899400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr1:84899000-84899400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr1:84899000-84899400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr1:84899000-84899400	Enhancers	Small Intestine	intestine
19	chr1:84899000-84899400	Flanking Active TSS	NHDF-Ad	bronchial
20	chr1:84899000-84899400	Flanking Active TSS	Osteobl	bone
21	chr1:84899000-84899600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:84899000-84899600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:84899000-84899600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:84899000-84899600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:84899000-84899600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:84899000-84899600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:84899000-84899600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr1:84899000-84899600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr1:84899000-84899600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr1:84899000-84899600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:84899000-84899600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr1:84899000-84899600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:84899000-84899600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:84899000-84899600	Active TSS	Brain Angular Gyrus	brain
35	chr1:84899000-84899600	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr1:84899000-84899600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:84899000-84899600	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr1:84899000-84899600	Active TSS	Right Atrium	heart
39	chr1:84899000-84899600	Active TSS	Right Ventricle	heart
40	chr1:84899000-84899600	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr1:84899000-84899600	Active TSS	Stomach Smooth Muscle	stomach
42	chr1:84899000-84899600	Enhancers	HepG2	liver
43	chr1:84899000-84899600	Flanking Active TSS	HUVEC	blood vessel
44	chr1:84899000-84899600	Flanking Active TSS	NH-A	brain
45	chr1:84899000-84899800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr1:84899000-84899800	Active TSS	Brain Anterior Caudate	brain
47	chr1:84899000-84899800	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr1:84899000-84899800	Active TSS	Brain Hippocampus Middle	brain
49	chr1:84899000-84899800	Active TSS	Brain Substantia Nigra	brain
50	chr1:84899000-84899800	Active TSS	Colon Smooth Muscle	Colon

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