Variant report

Variant	rs10128770
Chromosome Location	chr12:120649650-120649651
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	chr12:120646880..120656528-chr12:120726067..120732546,19	K562	blood:
2	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11065033	1.00[YRI][hapmap]
rs11065038	1.00[ASW][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11065052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1151826	0.86[AFR][1000 genomes]
rs1151828	1.00[ASW][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes]
rs1151831	0.87[YRI][hapmap];0.86[AFR][1000 genomes]
rs1151834	0.80[AFR][1000 genomes]
rs1166788	0.83[AFR][1000 genomes]
rs12298976	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs12319440	0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1634820	1.00[ASW][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes]
rs1732868	0.83[AFR][1000 genomes]
rs2524389	1.00[ASW][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes]
rs2701642	0.81[AFR][1000 genomes]
rs7957942	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
7	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
8	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120639600-120651400	Weak transcription	Stomach Mucosa	stomach
2	chr12:120640000-120650000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:120640000-120650200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:120640200-120649800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:120640200-120651400	Weak transcription	Fetal Kidney	kidney
6	chr12:120640200-120661800	Weak transcription	GM12878-XiMat	blood
7	chr12:120640200-120662400	Weak transcription	Fetal Brain Male	brain
8	chr12:120640400-120651400	Weak transcription	Brain Angular Gyrus	brain
9	chr12:120640600-120651200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:120643800-120651400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:120643800-120652800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:120643800-120654000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:120643800-120654200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:120643800-120661800	Strong transcription	Fetal Muscle Leg	muscle
15	chr12:120644000-120660400	Strong transcription	Fetal Intestine Small	intestine
16	chr12:120644000-120662600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:120644200-120649800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:120644200-120654400	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:120644200-120656600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:120644400-120654400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:120644800-120661400	Strong transcription	Fetal Intestine Large	intestine
22	chr12:120645200-120654200	Strong transcription	A549	lung
23	chr12:120645800-120649800	Weak transcription	Fetal Lung	lung
24	chr12:120645800-120656600	Weak transcription	K562	blood
25	chr12:120646400-120662400	Weak transcription	Right Atrium	heart
26	chr12:120646800-120653000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:120647000-120650600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:120647000-120652400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:120647000-120652600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:120647000-120661400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr12:120647200-120654200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr12:120647200-120661400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr12:120647400-120651400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:120647400-120652800	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr12:120647400-120653200	Strong transcription	Fetal Brain Female	brain
36	chr12:120647400-120653200	Strong transcription	Fetal Thymus	thymus
37	chr12:120647400-120653200	Strong transcription	Dnd41	blood
38	chr12:120647400-120654400	Strong transcription	Primary T cells from cord blood	blood
39	chr12:120647400-120661600	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr12:120647600-120650600	Strong transcription	HepG2	liver
41	chr12:120647600-120650600	Genic enhancers	NHEK	skin
42	chr12:120647600-120652400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:120647600-120652400	Strong transcription	Spleen	Spleen
44	chr12:120647600-120652600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:120647600-120652600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:120647600-120652600	Strong transcription	NH-A	brain
47	chr12:120647600-120652800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:120647600-120652800	Strong transcription	Brain Germinal Matrix	brain
49	chr12:120647600-120652800	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr12:120647600-120652800	Strong transcription	Thymus	Thymus

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