Variant report

Variant	rs25662
Chromosome Location	chr12:120652658-120652659
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120646880..120656528-chr12:120726067..120732546,19	K562	blood:
2	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
3	chr12:120649749..120656129-chr12:120724644..120730997,12	MCF-7	breast:
4	chr12:120552392..120555226-chr12:120651661..120653636,3	K562	blood:

Variant related genes	Relation type
ENSG00000123009	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12099681	0.86[AFR][1000 genomes]
rs55723776	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56792569	1.00[AMR][1000 genomes]
rs58733148	1.00[AMR][1000 genomes]
rs59159546	1.00[ASN][1000 genomes]
rs60937420	0.86[AFR][1000 genomes]
rs61063054	0.88[AFR][1000 genomes]
rs61753910	1.00[ASN][1000 genomes]
rs7305493	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7312238	0.85[AFR][1000 genomes]

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	chr12:120640200-120661800	Weak transcription	GM12878-XiMat	blood
2	chr12:120640200-120662400	Weak transcription	Fetal Brain Male	brain
3	chr12:120643800-120652800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:120643800-120654000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:120643800-120654200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:120643800-120661800	Strong transcription	Fetal Muscle Leg	muscle
7	chr12:120644000-120660400	Strong transcription	Fetal Intestine Small	intestine
8	chr12:120644000-120662600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:120644200-120654400	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:120644200-120656600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:120644400-120654400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:120644800-120661400	Strong transcription	Fetal Intestine Large	intestine
13	chr12:120645200-120654200	Strong transcription	A549	lung
14	chr12:120645800-120656600	Weak transcription	K562	blood
15	chr12:120646400-120662400	Weak transcription	Right Atrium	heart
16	chr12:120646800-120653000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:120647000-120661400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr12:120647200-120654200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr12:120647200-120661400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:120647400-120652800	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr12:120647400-120653200	Strong transcription	Fetal Brain Female	brain
22	chr12:120647400-120653200	Strong transcription	Fetal Thymus	thymus
23	chr12:120647400-120653200	Strong transcription	Dnd41	blood
24	chr12:120647400-120654400	Strong transcription	Primary T cells from cord blood	blood
25	chr12:120647400-120661600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr12:120647600-120652800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:120647600-120652800	Strong transcription	Brain Germinal Matrix	brain
28	chr12:120647600-120652800	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr12:120647600-120652800	Strong transcription	Thymus	Thymus
30	chr12:120647600-120653000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:120647600-120653000	Strong transcription	Brain Cingulate Gyrus	brain
32	chr12:120647600-120653000	Strong transcription	Placenta	Placenta
33	chr12:120647600-120653400	Strong transcription	Brain Hippocampus Middle	brain
34	chr12:120647600-120653600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:120647600-120654200	Strong transcription	HSMMtube	muscle
36	chr12:120647600-120654600	Strong transcription	Liver	Liver
37	chr12:120647600-120655000	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:120647600-120655000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:120647600-120655000	Strong transcription	Gastric	stomach
40	chr12:120647600-120655200	Strong transcription	Left Ventricle	heart
41	chr12:120647600-120655200	Strong transcription	Right Ventricle	heart
42	chr12:120647600-120655200	Strong transcription	NHLF	lung
43	chr12:120647600-120655200	Strong transcription	Osteobl	bone
44	chr12:120647600-120655400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:120647600-120655600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:120647600-120659000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:120647600-120659200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:120647600-120660000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr12:120647600-120661400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:120647600-120661400	Strong transcription	Pancreas	Pancrea

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