Variant report

Variant	rs12743757
Chromosome Location	chr1:10303401-10303402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9901779..9904041-chr1:10302410..10304191,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12734499	1.00[AFR][1000 genomes]
rs12737841	1.00[AFR][1000 genomes]
rs28878584	1.00[AFR][1000 genomes]
rs35106561	1.00[AFR][1000 genomes]
rs71643087	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv999251	chr1:10276263-10318163	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10276800-10311800	Weak transcription	Hela-S3	cervix
3	chr1:10277000-10322000	Weak transcription	Spleen	Spleen
4	chr1:10284800-10311000	Weak transcription	Small Intestine	intestine
5	chr1:10285200-10316000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:10285400-10310800	Weak transcription	Aorta	Aorta
7	chr1:10285400-10312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:10286800-10305800	Weak transcription	Ovary	ovary
9	chr1:10287400-10312400	Weak transcription	Pancreas	Pancrea
10	chr1:10289200-10317400	Weak transcription	Liver	Liver
11	chr1:10291000-10311800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:10291000-10311800	Weak transcription	HMEC	breast
13	chr1:10291200-10311200	Weak transcription	HUVEC	blood vessel
14	chr1:10291400-10308600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:10292400-10309400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:10292600-10303600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:10293000-10322000	Weak transcription	Primary T cells from cord blood	blood
18	chr1:10293600-10311400	Weak transcription	NH-A	brain
19	chr1:10293800-10305200	Weak transcription	Fetal Intestine Large	intestine
20	chr1:10295000-10310600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:10295400-10311400	Weak transcription	Osteobl	bone
22	chr1:10295600-10312000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:10295600-10316400	Weak transcription	Placenta	Placenta
24	chr1:10295600-10317600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:10295800-10322000	Weak transcription	Lung	lung
26	chr1:10296200-10305800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:10296200-10312400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:10296200-10313600	Weak transcription	Fetal Brain Female	brain
29	chr1:10296400-10305200	Weak transcription	Fetal Intestine Small	intestine
30	chr1:10296400-10309800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:10296400-10310600	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:10296400-10312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:10296400-10313200	Weak transcription	Fetal Stomach	stomach
34	chr1:10296400-10316800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:10297200-10316200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:10297200-10316200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:10297400-10305400	Weak transcription	Adipose Nuclei	Adipose
38	chr1:10297400-10309400	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:10297400-10310400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:10297400-10312400	Weak transcription	NHLF	lung
41	chr1:10297400-10316200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:10297600-10311200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:10297600-10311800	Weak transcription	HSMM	muscle
44	chr1:10297600-10311800	Weak transcription	NHDF-Ad	bronchial
45	chr1:10297600-10312400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:10297800-10307200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:10297800-10312400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:10298000-10306600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:10298000-10311400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:10298000-10312400	Weak transcription	HepG2	liver

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