Variant report

Variant	rs10012751
Chromosome Location	chr4:151386910-151386911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151379354..151382254-chr4:151385487..151387583,2	K562	blood:
2	chr4:151379354..151381771-chr4:151385487..151387954,2	K562	blood:
3	chr4:151386658..151389486-chr4:151390352..151392886,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10003280	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10006620	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10006771	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11099763	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11099764	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727950	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11932768	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12233717	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12643882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13101664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13102532	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13113682	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13123461	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13138244	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1504786	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2174365	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4380503	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4696352	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4696475	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7659120	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7680593	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830112	chr4:151243801-151431771	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr4:151333000-151408000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:151344800-151387200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:151345000-151389000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:151356600-151411200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr4:151356800-151391200	Weak transcription	Fetal Intestine Large	intestine
6	chr4:151358400-151398600	Weak transcription	GM12878-XiMat	blood
7	chr4:151364600-151387400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:151364600-151414800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:151372200-151402200	Weak transcription	Fetal Intestine Small	intestine
10	chr4:151373600-151398000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:151374400-151419000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:151376000-151387800	Weak transcription	Brain Angular Gyrus	brain
13	chr4:151376200-151409600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:151376800-151403800	Weak transcription	Ovary	ovary
15	chr4:151377000-151403400	Weak transcription	Aorta	Aorta
16	chr4:151377000-151412400	Weak transcription	Liver	Liver
17	chr4:151377600-151387000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:151377600-151387200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:151377600-151400000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:151377800-151387200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:151378000-151387600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr4:151378000-151398200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:151378200-151387200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:151379400-151387200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr4:151380000-151409600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr4:151381200-151408200	Weak transcription	Left Ventricle	heart
27	chr4:151381400-151411400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:151382400-151422400	Weak transcription	Adipose Nuclei	Adipose
29	chr4:151382800-151398000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:151384200-151388600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:151384400-151387400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:151384400-151388000	Weak transcription	Fetal Lung	lung
33	chr4:151384600-151390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:151384600-151404800	Weak transcription	HepG2	liver
35	chr4:151384600-151409800	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:151384800-151387200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr4:151385400-151387200	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:151385400-151442200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:151385800-151388800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:151385800-151403600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:151385800-151404600	Weak transcription	Brain Anterior Caudate	brain
42	chr4:151386000-151387200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:151386000-151393000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:151386000-151398000	Weak transcription	NHEK	skin
45	chr4:151386000-151403800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:151386000-151408800	Weak transcription	Pancreas	Pancrea
47	chr4:151386200-151387800	Strong transcription	Primary T cells from cord blood	blood
48	chr4:151386200-151391400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:151386400-151388800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:151386600-151388400	Strong transcription	Primary B cells from cord blood	blood

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