Variant report

Variant	rs17112728
Chromosome Location	chr1:95372768-95372769
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	GATA3	chr1:95372515-95373234	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr1:95372683-95373019	T-47D	breast:	n/a	n/a
3	GATA3	chr1:95372644-95373223	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr1:95372635-95373079	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
CNN3	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12058858	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12401925	0.94[AMR][1000 genomes]
rs17112682	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17112770	0.90[AMR][1000 genomes]
rs3789711	0.84[AMR][1000 genomes]
rs3860361	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9659040	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9660177	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95329000-95385000	Weak transcription	Colonic Mucosa	Colon
2	chr1:95350400-95378200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:95353400-95373600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:95353800-95373600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:95355000-95375200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:95355200-95373000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:95356200-95375000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:95357800-95390800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:95360200-95373800	Weak transcription	Fetal Intestine Small	intestine
10	chr1:95360200-95375000	Weak transcription	Psoas Muscle	Psoas
11	chr1:95360400-95378400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:95360800-95373600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:95361400-95379600	Weak transcription	Esophagus	oesophagus
14	chr1:95363600-95377200	Weak transcription	Gastric	stomach
15	chr1:95363800-95373000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:95364000-95388600	Weak transcription	Fetal Brain Male	brain
17	chr1:95364400-95375000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:95364800-95384800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:95365600-95375400	Weak transcription	Brain Germinal Matrix	brain
20	chr1:95367800-95375600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:95367800-95376200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:95368400-95388400	Weak transcription	Fetal Intestine Large	intestine
23	chr1:95368400-95390600	Weak transcription	Fetal Thymus	thymus
24	chr1:95368800-95373600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:95368800-95374000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:95369000-95378400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:95369000-95388200	Weak transcription	Fetal Brain Female	brain
28	chr1:95369200-95373600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:95369200-95373600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:95369200-95373600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:95369200-95373600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:95369200-95373800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:95369200-95376200	Weak transcription	Brain Substantia Nigra	brain
34	chr1:95369200-95378000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:95369400-95375200	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:95369600-95373400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:95369600-95374800	Weak transcription	A549	lung
38	chr1:95369600-95375000	Weak transcription	Fetal Heart	heart
39	chr1:95369600-95378000	Weak transcription	Brain Anterior Caudate	brain
40	chr1:95370400-95373800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:95370400-95373800	Weak transcription	Placenta	Placenta
42	chr1:95370400-95377800	Weak transcription	Small Intestine	intestine
43	chr1:95370800-95373400	Weak transcription	NHEK	skin
44	chr1:95370800-95373600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:95370800-95373600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:95370800-95373600	Weak transcription	Left Ventricle	heart
47	chr1:95370800-95375000	Weak transcription	Right Ventricle	heart
48	chr1:95370800-95375000	Weak transcription	HMEC	breast
49	chr1:95370800-95378000	Weak transcription	Aorta	Aorta
50	chr1:95371000-95373400	Weak transcription	Duodenum Mucosa	Duodenum

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