Variant report

Variant	rs7310046
Chromosome Location	chr12:45679488-45679489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45668515..45671060-chr12:45676704..45679676,2	K562	blood:
2	chr12:45679154..45681467-chr12:46121776..46123761,3	MCF-7	breast:
3	chr12:45625766..45629467-chr12:45675676..45680562,5	MCF-7	breast:
4	chr12:45677746..45679951-chr12:45681323..45682867,2	K562	blood:
5	chr12:45677743..45680287-chr12:45681430..45684437,3	MCF-7	breast:
6	chr12:45608418..45611765-chr12:45675004..45680451,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189079	Chromatin interaction
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1015626	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10459295	0.89[EUR][1000 genomes]
rs10748412	0.83[ASN][1000 genomes]
rs10785566	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880765	0.87[EUR][1000 genomes]
rs10880766	0.87[EUR][1000 genomes]
rs10880768	0.89[EUR][1000 genomes]
rs10880771	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182957	0.87[EUR][1000 genomes]
rs11182961	0.87[EUR][1000 genomes]
rs11182965	0.89[EUR][1000 genomes]
rs11182966	0.89[EUR][1000 genomes]
rs11182969	0.89[EUR][1000 genomes]
rs11182970	0.89[EUR][1000 genomes]
rs11182973	0.84[EUR][1000 genomes]
rs11182974	0.84[EUR][1000 genomes]
rs11614082	0.82[EUR][1000 genomes]
rs11614089	0.89[EUR][1000 genomes]
rs12228399	0.89[EUR][1000 genomes]
rs12815577	0.83[ASN][1000 genomes]
rs1399721	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913690	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1913692	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2012937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34759896	0.89[EUR][1000 genomes]
rs35032811	0.89[EUR][1000 genomes]
rs35400022	0.84[EUR][1000 genomes]
rs4326862	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768085	0.83[ASN][1000 genomes]
rs4768598	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768600	0.94[AFR][1000 genomes]
rs4768601	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768602	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768603	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768605	0.90[AFR][1000 genomes]
rs6582541	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7136368	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7138247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728590	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7304481	0.83[ASN][1000 genomes]
rs7307262	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309615	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7487910	0.83[ASN][1000 genomes]
rs7965430	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv690	chr12:45674127-45718859	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45662800-45685400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:45662800-45696800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:45663400-45680400	Weak transcription	GM12878-XiMat	blood
5	chr12:45666200-45709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:45668400-45697800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:45668600-45693000	Weak transcription	Pancreas	Pancrea
8	chr12:45670200-45680600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:45674200-45680400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:45674200-45706800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:45674400-45692200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:45674600-45686400	Weak transcription	K562	blood
13	chr12:45675000-45680600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:45675200-45680200	Enhancers	Fetal Intestine Large	intestine
15	chr12:45675600-45680200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:45675800-45709000	Weak transcription	Lung	lung
17	chr12:45676000-45686600	Weak transcription	Right Atrium	heart
18	chr12:45676200-45693000	Weak transcription	Fetal Stomach	stomach
19	chr12:45676400-45685600	Weak transcription	Primary B cells from cord blood	blood
20	chr12:45676400-45696000	Weak transcription	Fetal Thymus	thymus
21	chr12:45676400-45697800	Weak transcription	Dnd41	blood
22	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:45676600-45679600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:45677000-45680000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr12:45677000-45689800	Weak transcription	Liver	Liver
26	chr12:45677000-45696000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:45677200-45679800	Enhancers	NH-A	brain
28	chr12:45677200-45680200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:45677200-45680800	Enhancers	Placenta	Placenta
30	chr12:45677400-45681200	Enhancers	Colon Smooth Muscle	Colon
31	chr12:45677600-45698200	Weak transcription	Primary T cells from cord blood	blood
32	chr12:45677800-45680600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:45677800-45691800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:45677800-45696000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:45678000-45679800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:45678400-45679600	Weak transcription	Psoas Muscle	Psoas
37	chr12:45678400-45684000	Weak transcription	Small Intestine	intestine
38	chr12:45678400-45684200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:45678400-45686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:45678400-45688000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:45678600-45679600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:45678600-45679800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:45678600-45683000	Weak transcription	NHEK	skin
44	chr12:45678600-45683600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:45678600-45683600	Weak transcription	HSMM	muscle
46	chr12:45678600-45684200	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:45678600-45686400	Weak transcription	Ovary	ovary
48	chr12:45678600-45691800	Weak transcription	HUVEC	blood vessel
49	chr12:45678800-45679600	Weak transcription	Fetal Intestine Small	intestine
50	chr12:45678800-45679800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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