Variant report

Variant	rs12081607
Chromosome Location	chr1:180428529-180428530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10914013	0.85[AFR][1000 genomes]
rs11484581	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060882	0.81[LWK][hapmap]
rs12061731	0.85[AFR][1000 genomes]
rs12084845	0.91[AFR][1000 genomes]
rs12087729	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7552701	1.00[YRI][hapmap]

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	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv527918	chr1:180279710-180443808	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
6	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
7	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180379000-180430800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:180392600-180446200	Weak transcription	K562	blood
3	chr1:180401400-180430400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:180403400-180431200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:180403400-180448000	Weak transcription	HMEC	breast
6	chr1:180404200-180431800	Weak transcription	NHEK	skin
7	chr1:180404400-180469000	Weak transcription	Pancreas	Pancrea
8	chr1:180413000-180429400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:180417600-180431200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:180418000-180431200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:180418400-180430800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:180420600-180429600	Weak transcription	Fetal Lung	lung
13	chr1:180421000-180429000	Weak transcription	Brain Substantia Nigra	brain
14	chr1:180421000-180430400	Weak transcription	Primary B cells from cord blood	blood
15	chr1:180421000-180430600	Weak transcription	Brain Anterior Caudate	brain
16	chr1:180421000-180431200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:180421000-180431800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:180421000-180448000	Weak transcription	HSMM	muscle
19	chr1:180421200-180429400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:180421200-180430200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:180421200-180431200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:180421200-180431200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:180421200-180431400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:180421200-180431800	Weak transcription	A549	lung
25	chr1:180421200-180451600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:180421400-180431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:180421600-180429400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:180421600-180430600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:180421600-180431200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:180421600-180431200	Weak transcription	Ovary	ovary
31	chr1:180422200-180430600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:180423000-180429400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:180423000-180430600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:180423600-180429400	Weak transcription	Fetal Stomach	stomach
35	chr1:180424200-180430000	Weak transcription	Thymus	Thymus
36	chr1:180424400-180429800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:180424400-180430800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:180424800-180429400	Weak transcription	Lung	lung
39	chr1:180425000-180429400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:180425000-180429600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:180425000-180429600	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:180425600-180431400	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:180425800-180457600	Weak transcription	Aorta	Aorta
44	chr1:180426000-180430400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:180426600-180429400	Weak transcription	GM12878-XiMat	blood
46	chr1:180426600-180430600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:180426600-180430600	Weak transcription	Primary T cells from cord blood	blood
48	chr1:180426600-180431000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:180426600-180431000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:180426600-180431600	Weak transcription	Dnd41	blood

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