Variant report

Variant	rs12119268
Chromosome Location	chr1:210619434-210619435
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210612929..210615850-chr1:210617890..210620157,2	K562	blood:
2	chr1:210618870..210621785-chr1:211306135..211307908,2	MCF-7	breast:
3	chr1:210617470..210620137-chr1:211308701..211310289,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234233	Chromatin interaction
ENSG00000143473	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10779529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10863830	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119487	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11119490	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11119495	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11119496	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12028017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12035213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12124208	0.83[AFR][1000 genomes]
rs12133649	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12137102	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12142231	0.83[AFR][1000 genomes]
rs12145163	0.83[AFR][1000 genomes]
rs17260431	0.83[AFR][1000 genomes]
rs17260438	0.83[AFR][1000 genomes]
rs17260466	0.83[AFR][1000 genomes]
rs3765838	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3765848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3765853	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3819985	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253918	0.83[AFR][1000 genomes]
rs4620549	0.83[AFR][1000 genomes]
rs55726579	0.83[AFR][1000 genomes]
rs6540599	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756883	chr1:210579523-210620779	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	esv2758995	chr1:210579523-210620779	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv999833	chr1:210604734-210620211	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210571400-210641000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:210592800-210625000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:210609200-210619800	Weak transcription	Esophagus	oesophagus
4	chr1:210611600-210639600	Weak transcription	Aorta	Aorta
5	chr1:210613600-210619600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:210614600-210619800	Weak transcription	A549	lung
7	chr1:210614600-210641200	Weak transcription	Gastric	stomach
8	chr1:210614800-210619800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:210614800-210623800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:210615000-210619600	Weak transcription	Osteobl	bone
11	chr1:210618400-210620800	Enhancers	Thymus	Thymus
12	chr1:210618400-210621400	Genic enhancers	HSMM	muscle
13	chr1:210618600-210619800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:210618800-210620000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:210618800-210620200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:210618800-210620200	Enhancers	Fetal Muscle Leg	muscle
17	chr1:210618800-210620600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:210619000-210619600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:210619000-210619800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:210619000-210619800	Enhancers	Dnd41	blood
21	chr1:210619000-210620200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:210619000-210620200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:210619000-210620200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:210619000-210620200	Enhancers	Primary T cells from cord blood	blood
25	chr1:210619000-210620200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:210619000-210620200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:210619000-210620400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:210619000-210620400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr1:210619000-210620400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:210619000-210620400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:210619000-210620600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:210619000-210620800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr1:210619000-210621800	Enhancers	Fetal Thymus	thymus
34	chr1:210619200-210619800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:210619200-210619800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:210619200-210620000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:210619200-210620000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:210619200-210620200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr1:210619200-210620400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:210619200-210620600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:210619400-210619600	Enhancers	Placenta	Placenta
42	chr1:210619400-210620000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:210619400-210620000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr1:210619400-210620000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:210619400-210620000	Flanking Active TSS	HSMMtube	muscle
46	chr1:210619400-210620200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:210619400-210620200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr1:210619400-210620200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:210619400-210620200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:210619400-210620200	Enhancers	Fetal Muscle Trunk	muscle

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