Variant report

Variant	rs4768601
Chromosome Location	chr12:45692799-45692800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45606867..45609787-chr12:45691582..45693288,2	K562	blood:
2	chr12:45690992..45693119-chr12:45698128..45699673,2	MCF-7	breast:
3	chr12:45609373..45612977-chr12:45689152..45693084,3	MCF-7	breast:
4	chr12:45687856..45690300-chr12:45690892..45693312,2	K562	blood:
5	chr12:45686301..45689290-chr12:45690781..45693334,2	K562	blood:

Variant related genes	Relation type
ENSG00000177119	Chromatin interaction
ENSG00000134297	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1015626	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10459295	0.87[EUR][1000 genomes]
rs10785566	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880761	0.81[JPT][hapmap]
rs10880762	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs10880764	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs10880765	0.85[EUR][1000 genomes]
rs10880766	0.85[EUR][1000 genomes]
rs10880768	0.87[EUR][1000 genomes]
rs10880771	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182905	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs11182918	0.80[JPT][hapmap]
rs11182949	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs11182957	0.85[EUR][1000 genomes]
rs11182961	0.85[EUR][1000 genomes]
rs11182965	0.87[EUR][1000 genomes]
rs11182966	0.87[EUR][1000 genomes]
rs11182969	0.87[EUR][1000 genomes]
rs11182970	0.87[EUR][1000 genomes]
rs11182973	0.82[EUR][1000 genomes]
rs11182974	0.82[EUR][1000 genomes]
rs11614082	0.80[EUR][1000 genomes]
rs11614089	0.87[EUR][1000 genomes]
rs12228399	0.87[EUR][1000 genomes]
rs12230322	0.80[JPT][hapmap]
rs12231753	0.80[JPT][hapmap]
rs12320168	0.80[JPT][hapmap]
rs12815577	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs1399721	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1913690	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1913692	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012937	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2052603	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs2408184	0.80[JPT][hapmap]
rs34759896	0.87[EUR][1000 genomes]
rs35032811	0.87[EUR][1000 genomes]
rs35400022	0.82[EUR][1000 genomes]
rs4326862	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768085	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs4768598	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768600	0.92[YRI][hapmap];0.91[AFR][1000 genomes]
rs4768602	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768603	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768605	0.88[AFR][1000 genomes]
rs6582541	0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136368	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7138247	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs728590	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304481	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs7307262	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7309615	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310046	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7487910	0.88[ASN][1000 genomes]
rs759849	0.81[YRI][hapmap]
rs7965430	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][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	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
3	nsv826357	chr12:45691091-45740769	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:77 , 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	chr12:45662800-45696800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:45666200-45709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:45668400-45697800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:45668600-45693000	Weak transcription	Pancreas	Pancrea
6	chr12:45674200-45706800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:45675800-45709000	Weak transcription	Lung	lung
8	chr12:45676200-45693000	Weak transcription	Fetal Stomach	stomach
9	chr12:45676400-45696000	Weak transcription	Fetal Thymus	thymus
10	chr12:45676400-45697800	Weak transcription	Dnd41	blood
11	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:45677000-45696000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:45677600-45698200	Weak transcription	Primary T cells from cord blood	blood
14	chr12:45677800-45696000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
16	chr12:45680400-45697600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:45680800-45693000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:45681000-45698200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:45681200-45697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:45683600-45709400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:45684400-45693000	Weak transcription	Small Intestine	intestine
22	chr12:45684400-45721800	Weak transcription	Esophagus	oesophagus
23	chr12:45685000-45693400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:45685800-45697800	Weak transcription	GM12878-XiMat	blood
25	chr12:45685800-45698200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:45686200-45707000	Weak transcription	Primary B cells from cord blood	blood
27	chr12:45686800-45693000	Weak transcription	Left Ventricle	heart
28	chr12:45686800-45693200	Weak transcription	Ovary	ovary
29	chr12:45687000-45692800	Weak transcription	HSMMtube	muscle
30	chr12:45687000-45697200	Weak transcription	Aorta	Aorta
31	chr12:45687200-45693600	Enhancers	Fetal Heart	heart
32	chr12:45688000-45693000	Weak transcription	HMEC	breast
33	chr12:45688400-45694200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:45690000-45693200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:45690000-45693200	Weak transcription	Placenta	Placenta
36	chr12:45690600-45695000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr12:45690600-45697800	Weak transcription	Liver	Liver
38	chr12:45691000-45693000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:45691000-45693000	Weak transcription	Right Atrium	heart
40	chr12:45691000-45708600	Weak transcription	Stomach Mucosa	stomach
41	chr12:45691000-45708800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:45691400-45694000	Enhancers	K562	blood
43	chr12:45691600-45693000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:45691600-45693200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:45691800-45693200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:45691800-45693400	Enhancers	Fetal Lung	lung
47	chr12:45691800-45693600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:45691800-45693800	Enhancers	HUVEC	blood vessel
49	chr12:45691800-45694200	Enhancers	Right Ventricle	heart
50	chr12:45691800-45694400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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