Variant report

Variant	rs12753741
Chromosome Location	chr1:211789475-211789476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211782443..211790536-chr1:211800686..211806134,8	K562	blood:
2	chr1:211750028..211753118-chr1:211788431..211791271,4	K562	blood:
3	chr1:211788189..211791176-chr1:211807791..211810721,2	MCF-7	breast:
4	chr1:211777656..211789537-chr1:211792028..211798981,15	K562	blood:
5	chr1:211786818..211788395-chr1:211788952..211790929,2	K562	blood:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11579863	0.89[EUR][1000 genomes]
rs11581007	0.89[EUR][1000 genomes]
rs11581625	0.89[EUR][1000 genomes]
rs11587301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11587322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11587366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11588304	0.96[EUR][1000 genomes]
rs11589756	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11591188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17017858	0.89[EUR][1000 genomes]
rs34054023	0.82[EUR][1000 genomes]
rs34490984	0.89[EUR][1000 genomes]
rs35101434	0.89[EUR][1000 genomes]
rs35478833	0.89[EUR][1000 genomes]
rs35538219	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6698045	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67342358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67375934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67470142	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71640026	1.00[AMR][1000 genomes];0.96[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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211781800-211792000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:211785000-211789800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:211785200-211790000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:211785400-211789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:211785400-211789600	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:211785600-211794800	Weak transcription	Brain Anterior Caudate	brain
7	chr1:211786600-211789600	Weak transcription	Brain Substantia Nigra	brain
8	chr1:211786600-211789800	Weak transcription	Ovary	ovary
9	chr1:211786800-211789600	Weak transcription	Aorta	Aorta
10	chr1:211786800-211789600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:211786800-211789600	Weak transcription	Esophagus	oesophagus
12	chr1:211786800-211789800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:211787000-211789600	Weak transcription	Left Ventricle	heart
14	chr1:211787000-211789600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:211787000-211789600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:211787000-211789800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:211787000-211796800	Weak transcription	Gastric	stomach
18	chr1:211787400-211789800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:211787400-211790000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:211787400-211793400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:211787600-211789600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:211787600-211789600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:211787600-211789800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:211787600-211789800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:211788200-211789600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:211788200-211790200	Weak transcription	Colonic Mucosa	Colon
27	chr1:211788200-211794600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:211788400-211789600	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:211788400-211790000	Weak transcription	Stomach Mucosa	stomach
30	chr1:211788400-211790200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:211788400-211791800	Enhancers	K562	blood
32	chr1:211788400-211793400	Weak transcription	Spleen	Spleen
33	chr1:211788600-211792200	Weak transcription	Fetal Intestine Large	intestine
34	chr1:211788800-211792600	Enhancers	HepG2	liver
35	chr1:211789000-211792200	Weak transcription	Fetal Intestine Small	intestine
36	chr1:211789200-211792600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:211789400-211789600	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:211789400-211790000	Enhancers	Fetal Lung	lung
39	chr1:211789400-211790200	Enhancers	Fetal Stomach	stomach
40	chr1:211789400-211790400	Enhancers	Liver	Liver
41	chr1:211789400-211790400	Enhancers	Right Atrium	heart
42	chr1:211789400-211790400	Enhancers	Right Ventricle	heart
43	chr1:211789400-211790600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:211789400-211790600	Enhancers	Adipose Nuclei	Adipose
45	chr1:211789400-211790800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:211789400-211790800	Enhancers	Fetal Muscle Trunk	muscle

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