Variant report

Variant	rs12123429
Chromosome Location	chr1:211820370-211820371
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211816134..211817787-chr1:211819701..211822516,2	K562	blood:
2	chr1:211808019..211810498-chr1:211819976..211822363,2	K562	blood:
3	chr1:211750037..211752864-chr1:211820167..211823136,4	MCF-7	breast:
4	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:
5	chr1:211819966..211822371-chr1:211824422..211826209,2	K562	blood:
6	chr1:211816612..211818942-chr1:211819387..211821012,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228792	Chromatin interaction
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10158305	0.84[EUR][1000 genomes]
rs10158307	0.84[EUR][1000 genomes]
rs10158309	0.84[EUR][1000 genomes]
rs10158749	0.83[EUR][1000 genomes]
rs10158790	0.84[EUR][1000 genomes]
rs10158874	0.83[EUR][1000 genomes]
rs10159253	0.82[EUR][1000 genomes]
rs10779564	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10779565	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10779566	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10863919	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10863920	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11119780	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11119786	0.80[CEU][hapmap];0.97[YRI][hapmap];0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11119787	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576789	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs11577255	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12087826	0.88[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes]
rs12090722	0.96[ASN][1000 genomes]
rs12142250	0.83[EUR][1000 genomes]
rs12727505	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12758005	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs1373293	0.84[EUR][1000 genomes]
rs35531215	0.84[EUR][1000 genomes]
rs4245741	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4951415	0.87[ASN][1000 genomes]
rs4951416	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951418	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951419	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951421	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951537	0.81[ASN][1000 genomes]
rs4951539	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951540	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61851777	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6540698	0.95[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6669878	0.84[EUR][1000 genomes]
rs6670986	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6671497	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6671506	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6675796	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs7513348	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7523748	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7527270	0.86[CHB][hapmap]
rs7551699	0.86[EUR][1000 genomes]
rs894853	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs894854	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs894855	0.93[EUR][1000 genomes];0.96[ASN][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
2	chr1:211811600-211828200	Enhancers	Fetal Intestine Large	intestine
3	chr1:211813600-211821600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:211813800-211822600	Weak transcription	NHDF-Ad	bronchial
5	chr1:211817200-211821200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:211817400-211827000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:211817400-211827400	Weak transcription	Fetal Heart	heart
8	chr1:211817600-211821000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:211817600-211821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:211817600-211821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:211817600-211821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:211817600-211821200	Weak transcription	Brain Anterior Caudate	brain
13	chr1:211817600-211821200	Weak transcription	Colonic Mucosa	Colon
14	chr1:211817600-211821200	Weak transcription	Esophagus	oesophagus
15	chr1:211817600-211821200	Weak transcription	Placenta	Placenta
16	chr1:211817600-211821200	Weak transcription	Pancreas	Pancrea
17	chr1:211817600-211821200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:211817600-211821200	Weak transcription	Stomach Mucosa	stomach
19	chr1:211817600-211821800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:211817600-211823000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:211817600-211823200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:211817600-211826800	Weak transcription	Gastric	stomach
23	chr1:211817600-211827000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:211817600-211830600	Weak transcription	Right Atrium	heart
25	chr1:211817800-211821200	Weak transcription	HMEC	breast
26	chr1:211817800-211821600	Weak transcription	K562	blood
27	chr1:211818000-211821400	Weak transcription	Fetal Thymus	thymus
28	chr1:211818400-211820800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:211818400-211821200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:211818400-211828400	Weak transcription	Adipose Nuclei	Adipose
31	chr1:211818600-211821200	Enhancers	Hela-S3	cervix
32	chr1:211818600-211823000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:211818800-211820800	Weak transcription	HepG2	liver
34	chr1:211818800-211821200	Weak transcription	Liver	Liver
35	chr1:211819400-211821000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:211819600-211824000	Enhancers	HUVEC	blood vessel
37	chr1:211819600-211824400	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:211820200-211820400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:211820200-211821600	Enhancers	A549	lung

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