Variant report

Variant	rs12758005
Chromosome Location	chr1:211816328-211816329
allele	A/G
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	POLR2A	chr1:211815491-211817685	Hela-S3	cervix:	n/a	n/a
2	STAT1	chr1:211816244-211817683	Hela-S3	cervix:	n/a	chr1:211817011-211817023 chr1:211817319-211817327 chr1:211817317-211817328 chr1:211817577-211817588
3	SMC3	chr1:211816242-211816341	Hela-S3	cervix:	n/a	n/a
4	SMARCB1	chr1:211816234-211817602	Hela-S3	cervix:	n/a	n/a
5	SMARCC1	chr1:211815965-211817609	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211750794..211754252-chr1:211815868..211819773,4	MCF-7	breast:
2	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:

Variant related genes	Relation type
ENSG00000228792	TF binding region
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10158305	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10158307	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10158309	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10158749	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10158790	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10158874	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10159253	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10779564	0.87[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs10779565	0.82[EUR][1000 genomes]
rs10779566	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs10863919	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs10863920	0.84[EUR][1000 genomes]
rs11119780	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs11119783	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119785	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119786	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119787	0.83[EUR][1000 genomes]
rs11576789	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11577255	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12123429	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs12142250	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12727505	0.84[EUR][1000 genomes]
rs12734494	0.90[ASN][1000 genomes]
rs12741252	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs12744873	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1373293	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34451435	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35531215	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245741	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs4951419	0.80[EUR][1000 genomes]
rs4951539	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs61851777	0.82[EUR][1000 genomes]
rs6540698	0.82[EUR][1000 genomes]
rs6667179	0.82[JPT][hapmap]
rs6669878	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6670986	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs6671497	0.82[EUR][1000 genomes]
rs6693364	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7523748	0.80[CEU][hapmap]
rs7525247	0.82[JPT][hapmap]
rs7551699	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs894853	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs894854	0.82[EUR][1000 genomes]
rs894855	0.81[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	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211804200-211816600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:211807200-211816600	Weak transcription	Right Ventricle	heart
3	chr1:211807200-211817200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:211807400-211816800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:211807600-211816600	Weak transcription	Left Ventricle	heart
6	chr1:211810600-211816400	Weak transcription	Spleen	Spleen
7	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
8	chr1:211811600-211828200	Enhancers	Fetal Intestine Large	intestine
9	chr1:211812400-211816600	Weak transcription	Adipose Nuclei	Adipose
10	chr1:211812600-211816600	Weak transcription	Esophagus	oesophagus
11	chr1:211813200-211816400	Weak transcription	HMEC	breast
12	chr1:211813200-211816600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:211813200-211817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:211813400-211816400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:211813600-211816600	Weak transcription	Placenta	Placenta
16	chr1:211813600-211817200	Weak transcription	HSMM	muscle
17	chr1:211813600-211821600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:211813800-211816400	Weak transcription	A549	lung
19	chr1:211813800-211816600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:211813800-211816800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:211813800-211817000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:211813800-211822600	Weak transcription	NHDF-Ad	bronchial
23	chr1:211814000-211816400	Weak transcription	Fetal Heart	heart
24	chr1:211814000-211816800	Weak transcription	HUVEC	blood vessel
25	chr1:211814000-211817000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:211814000-211817000	Weak transcription	Osteobl	bone
27	chr1:211814200-211816800	Weak transcription	NHLF	lung
28	chr1:211814400-211816400	Weak transcription	NH-A	brain
29	chr1:211814600-211818600	Flanking Active TSS	Hela-S3	cervix
30	chr1:211815000-211816600	Weak transcription	Liver	Liver
31	chr1:211816000-211817000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:211816000-211817400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:211816000-211817600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:211816000-211818000	Enhancers	Fetal Thymus	thymus
35	chr1:211816000-211818400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:211816200-211817000	Enhancers	Colonic Mucosa	Colon
37	chr1:211816200-211817400	Enhancers	Lung	lung
38	chr1:211816200-211817600	Enhancers	Brain Hippocampus Middle	brain
39	chr1:211816200-211817600	Enhancers	Fetal Muscle Leg	muscle
40	chr1:211816200-211817600	Enhancers	Ovary	ovary
41	chr1:211816200-211817600	Enhancers	Pancreas	Pancrea
42	chr1:211816200-211817600	Enhancers	Stomach Mucosa	stomach
43	chr1:211816200-211817800	Flanking Active TSS	HepG2	liver
44	chr1:211816200-211818600	Enhancers	Duodenum Mucosa	Duodenum
45	chr1:211816200-211819400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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