Variant report

Variant	rs11058206
Chromosome Location	chr12:122935163-122935164
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	chr12:122934144..122936687-chr12:122938638..122940695,2	K562	blood:
2	chr12:122904517..122908948-chr12:122931200..122935714,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10846839	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10846854	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10846896	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11057562	0.84[AMR][1000 genomes]
rs11057787	0.82[AMR][1000 genomes]
rs11057810	0.84[AMR][1000 genomes]
rs11057832	0.87[AMR][1000 genomes]
rs11057894	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11057934	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11058001	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11058009	0.91[AMR][1000 genomes]
rs11058010	0.84[AMR][1000 genomes]
rs11058043	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11058062	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11058064	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11058099	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11058136	0.86[AMR][1000 genomes]
rs11058143	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11058144	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11058159	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11058186	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11058232	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11058237	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12229152	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12229345	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12424715	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12426619	0.80[ASN][1000 genomes]
rs12427143	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12427421	0.86[AMR][1000 genomes]
rs2173581	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3817012	0.86[AMR][1000 genomes]
rs4758672	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4758694	0.86[AMR][1000 genomes]
rs4758697	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56861120	0.86[AMR][1000 genomes]
rs56863652	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58062133	0.84[AMR][1000 genomes]
rs58766840	0.86[AMR][1000 genomes]
rs58853108	0.86[AMR][1000 genomes]
rs61954399	0.84[AMR][1000 genomes]
rs61954405	0.80[AMR][1000 genomes]
rs61954416	0.86[AMR][1000 genomes]
rs61954418	0.86[AMR][1000 genomes]
rs61954422	0.87[AMR][1000 genomes]
rs61954424	0.91[AMR][1000 genomes]
rs61954425	0.87[AMR][1000 genomes]
rs61954427	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61954441	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61954442	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61954447	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61954450	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61956097	0.88[ASN][1000 genomes]
rs8181750	0.82[AMR][1000 genomes]
rs882969	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122931400-122938200	Weak transcription	HepG2	liver
3	chr12:122931800-122937400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:122931800-122938400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:122932000-122937200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:122932000-122937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:122933000-122935400	Enhancers	Placenta	Placenta
8	chr12:122934200-122936800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:122934400-122937400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:122934400-122937400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:122934400-122938400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:122934600-122937400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:122934600-122937400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:122934600-122937800	Weak transcription	Hela-S3	cervix
15	chr12:122934600-122938400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:122934600-122938400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:122934600-122938400	Weak transcription	NHEK	skin
18	chr12:122934600-122938600	Weak transcription	A549	lung
19	chr12:122934600-122938600	Weak transcription	HMEC	breast
20	chr12:122934800-122935200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:122934800-122936600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:122934800-122936800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:122934800-122937400	Weak transcription	Small Intestine	intestine
24	chr12:122934800-122938400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:122934800-122942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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