Variant report

Variant	rs12064436
Chromosome Location	chr1:120154200-120154201
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:120153476..120155640-chr1:120190161..120192811,2	K562	blood:
2	chr1:120125219..120126121-chr1:120153919..120154547,2	MCF-7	breast:
3	chr1:120153709..120155634-chr1:120202418..120204087,2	MCF-7	breast:
4	chr1:120154194..120154867-chr1:120205886..120206437,3	MCF-7	breast:
5	chr1:120154003..120154965-chr1:120217033..120218809,10	K562	blood:
6	chr1:120154067..120155007-chr1:120217498..120218673,7	MCF-7	breast:
7	chr1:120151431..120154337-chr1:120190081..120192940,2	MCF-7	breast:
8	chr1:120154024..120154620-chr1:120217678..120218364,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143067	Chromatin interaction
ENSG00000092621	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10802119	0.90[ASN][1000 genomes]
rs10802122	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10923874	0.95[ASN][1000 genomes]
rs10923876	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10923877	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11799580	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808216	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12065721	0.90[ASN][1000 genomes]
rs12078510	0.90[ASN][1000 genomes]
rs17024188	1.00[CEU][hapmap]
rs4659212	0.95[ASN][1000 genomes]
rs6689350	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1004662	chr1:119847447-120154798	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2763647	chr1:119929442-120154798	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv946186	chr1:120091427-120161787	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv2756860	chr1:120098661-120162442	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv999314	chr1:120098719-120156465	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv463317	chr1:120107602-120162787	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv547618	chr1:120107602-120162787	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv515644	chr1:120110104-120154603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv547619	chr1:120110104-120154603	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1006447	chr1:120123722-120154798	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv3396456	chr1:120124380-120155493	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv999416	chr1:120125308-120154798	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1005272	chr1:120125308-120156051	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	esv3379396	chr1:120126720-120157658	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv2754874	chr1:120126990-120156051	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv1010583	chr1:120126990-120156465	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv999291	chr1:120129344-120156465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv872179	chr1:120131597-120162787	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120115200-120160800	Weak transcription	Gastric	stomach
2	chr1:120139800-120156600	Weak transcription	Left Ventricle	heart
3	chr1:120146200-120165000	Weak transcription	Aorta	Aorta
4	chr1:120146400-120154600	Weak transcription	Fetal Brain Male	brain
5	chr1:120147000-120156600	Weak transcription	Right Ventricle	heart
6	chr1:120147400-120160800	Weak transcription	Psoas Muscle	Psoas
7	chr1:120149400-120156200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:120149600-120160800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:120149800-120156600	Weak transcription	Right Atrium	heart
10	chr1:120150200-120159200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:120151000-120156600	Weak transcription	Fetal Lung	lung
12	chr1:120151200-120159200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:120151200-120160400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:120152200-120167800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:120152400-120156600	Weak transcription	HUVEC	blood vessel
16	chr1:120153000-120154200	Weak transcription	NHEK	skin
17	chr1:120153200-120154200	Weak transcription	Fetal Intestine Large	intestine
18	chr1:120153200-120156600	Weak transcription	Placenta	Placenta
19	chr1:120153200-120164400	Weak transcription	Fetal Intestine Small	intestine
20	chr1:120153400-120154200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:120153400-120160800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:120153800-120154400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:120153800-120154400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:120153800-120154400	Enhancers	GM12878-XiMat	blood
25	chr1:120154000-120154200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:120154000-120154200	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr1:120154000-120154400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:120154000-120154400	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:120154000-120154600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:120154000-120154600	Enhancers	Fetal Heart	heart
31	chr1:120154000-120154600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr1:120154000-120154800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:120154000-120154800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:120154000-120154800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:120154000-120154800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:120154000-120154800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:120154000-120154800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:120154000-120154800	Enhancers	Liver	Liver
39	chr1:120154000-120154800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:120154200-120154400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:120154200-120154400	Enhancers	Brain Substantia Nigra	brain
42	chr1:120154200-120154600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:120154200-120154600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:120154200-120154600	Enhancers	Fetal Intestine Large	intestine
45	chr1:120154200-120154600	Enhancers	Stomach Smooth Muscle	stomach
46	chr1:120154200-120154600	Enhancers	NHEK	skin
47	chr1:120154200-120154800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr1:120154200-120154800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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