Variant report

Variant	rs10128975
Chromosome Location	chr12:32403172-32403173
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32402773..32403520-chr12:32414705..32415218,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11051888	1.00[AMR][1000 genomes]
rs12298558	0.84[ASN][1000 genomes]
rs12299520	1.00[AMR][1000 genomes]
rs12300593	1.00[AMR][1000 genomes]
rs12303072	1.00[AMR][1000 genomes]
rs12304690	1.00[AMR][1000 genomes]
rs12307772	1.00[ASN][1000 genomes]
rs12307792	0.84[ASN][1000 genomes]
rs12312114	0.84[ASN][1000 genomes]
rs12314155	1.00[AMR][1000 genomes]
rs12319221	1.00[ASN][1000 genomes]
rs16919495	1.00[ASN][1000 genomes]
rs16919525	0.84[ASN][1000 genomes]
rs16919527	0.84[ASN][1000 genomes]
rs34086654	1.00[AMR][1000 genomes]
rs35150110	1.00[AMR][1000 genomes]
rs56721887	0.82[ASN][1000 genomes]
rs56859103	0.82[ASN][1000 genomes]
rs59032949	0.84[ASN][1000 genomes]
rs60631634	0.82[ASN][1000 genomes]
rs6488039	0.84[ASN][1000 genomes]
rs7136736	0.84[ASN][1000 genomes]
rs7136837	0.84[ASN][1000 genomes]
rs7136969	0.84[ASN][1000 genomes]
rs7137031	0.84[ASN][1000 genomes]
rs7137148	0.84[ASN][1000 genomes]
rs7316052	0.82[ASN][1000 genomes]
rs73310720	0.84[ASN][1000 genomes]
rs73310737	0.84[ASN][1000 genomes]
rs73310739	1.00[ASN][1000 genomes]
rs7956048	0.84[ASN][1000 genomes]
rs7962134	0.84[ASN][1000 genomes]
rs7971625	0.84[ASN][1000 genomes]
rs7974961	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription 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	19 gene(s)	inside rSNPs	diseases
5	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32370200-32407800	Weak transcription	Hela-S3	cervix
2	chr12:32371200-32406800	Weak transcription	Primary T cells from cord blood	blood
3	chr12:32390800-32405400	Weak transcription	Ovary	ovary
4	chr12:32390800-32410600	Weak transcription	Primary B cells from cord blood	blood
5	chr12:32391200-32405200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:32391200-32408000	Weak transcription	Fetal Brain Female	brain
7	chr12:32391200-32409200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:32391600-32408000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:32393600-32410400	Weak transcription	NHLF	lung
10	chr12:32393600-32423800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:32394000-32424200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:32394200-32405600	Weak transcription	A549	lung
13	chr12:32394400-32423800	Weak transcription	NH-A	brain
14	chr12:32394600-32414400	Weak transcription	HUVEC	blood vessel
15	chr12:32397400-32405400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:32400400-32405400	Weak transcription	Dnd41	blood
17	chr12:32401200-32403200	Enhancers	NHEK	skin
18	chr12:32401200-32403400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:32401200-32403800	Enhancers	HMEC	breast
20	chr12:32401400-32403200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:32401400-32403200	Enhancers	NHDF-Ad	bronchial
22	chr12:32401400-32403400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:32401400-32403400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:32401400-32403400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:32401400-32403800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:32401600-32403200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr12:32401600-32403200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr12:32401600-32410400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:32401800-32403400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:32401800-32405600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:32401800-32409200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:32402000-32403400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:32402000-32405400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:32402000-32408400	Weak transcription	Fetal Intestine Small	intestine
35	chr12:32402000-32409400	Weak transcription	Aorta	Aorta
36	chr12:32402000-32417800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:32402000-32424000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:32402200-32403200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr12:32402200-32403400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:32402400-32403400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr12:32402400-32403400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr12:32402400-32403400	Enhancers	Brain Germinal Matrix	brain
43	chr12:32402400-32405200	Weak transcription	GM12878-XiMat	blood
44	chr12:32402400-32423600	Weak transcription	Osteobl	bone
45	chr12:32402600-32403200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:32402600-32403200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:32402600-32403200	Enhancers	HSMM	muscle
48	chr12:32402600-32403400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:32402600-32403400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr12:32402600-32405600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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