Variant report

Variant	rs2147766
Chromosome Location	chr1:178991912-178991913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:178991880-178992030	GM12875	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:178989810..178992639-chr1:179050262..179052543,2	MCF-7	breast:
2	chr1:178991699..178994582-chr1:179050061..179052704,4	MCF-7	breast:
3	chr1:178991905..178994151-chr3:61854506..61856753,2	MCF-7	breast:

Variant related genes	Relation type
FAM20B	TF binding region
ENSG00000186283	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16853610	0.94[EUR][1000 genomes]
rs2025580	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2274228	0.89[AFR][1000 genomes]
rs4456058	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs45499094	0.85[AFR][1000 genomes]
rs55697941	0.82[EUR][1000 genomes]
rs55781720	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56093002	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56107346	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544822	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:178986400-178994200	Weak transcription	Right Atrium	heart
2	chr1:178986400-178994200	Weak transcription	Spleen	Spleen
3	chr1:178986400-178994400	Weak transcription	Lung	lung
4	chr1:178986600-178994000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:178986800-178994200	Weak transcription	Liver	Liver
6	chr1:178987200-178994200	Weak transcription	Fetal Lung	lung
7	chr1:178987400-178994000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:178987400-178994200	Weak transcription	Left Ventricle	heart
9	chr1:178987400-178994400	Weak transcription	Fetal Stomach	stomach
10	chr1:178989200-178994600	Weak transcription	Esophagus	oesophagus
11	chr1:178989600-178992600	Weak transcription	Fetal Intestine Large	intestine
12	chr1:178989600-178992600	Weak transcription	Fetal Intestine Small	intestine
13	chr1:178989600-178993000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:178989600-178993000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:178989600-178994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:178989600-178994600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:178989800-178994200	Weak transcription	Stomach Mucosa	stomach
18	chr1:178990400-178993400	Enhancers	K562	blood
19	chr1:178991000-178992000	Flanking Active TSS	Osteobl	bone
20	chr1:178991200-178994200	Weak transcription	Aorta	Aorta
21	chr1:178991400-178992800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:178991400-178993200	Weak transcription	HepG2	liver
23	chr1:178991400-178994400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:178991400-178994600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:178991600-178992000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:178991600-178992000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:178991600-178992000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr1:178991600-178992000	Enhancers	Brain Substantia Nigra	brain
29	chr1:178991600-178992400	Enhancers	Fetal Muscle Trunk	muscle
30	chr1:178991600-178993000	Weak transcription	Brain Germinal Matrix	brain
31	chr1:178991600-178993600	Enhancers	Fetal Muscle Leg	muscle
32	chr1:178991600-178993600	Weak transcription	Placenta	Placenta
33	chr1:178991600-178994000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:178991600-178994000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:178991600-178994000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:178991600-178994000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:178991600-178994000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:178991600-178994200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:178991600-178994200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:178991600-178994200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:178991600-178994200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:178991600-178994200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:178991600-178994200	Weak transcription	Adipose Nuclei	Adipose
44	chr1:178991600-178994200	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:178991600-178994200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:178991600-178994200	Weak transcription	Psoas Muscle	Psoas
47	chr1:178991600-178994200	Weak transcription	A549	lung
48	chr1:178991600-178994200	Weak transcription	HSMM	muscle
49	chr1:178991600-178994200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr1:178991600-178994400	Weak transcription	Primary hematopoietic stem cells	blood

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