Variant report

Variant	rs12122596
Chromosome Location	chr1:151810304-151810305
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr1:151810169-151812785	H1-hESC	embryonic stem cell:	n/a	chr1:151811992-151812003 chr1:151812264-151812273 chr1:151811542-151811551

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151510584..151515702-chr1:151808389..151812312,7	MCF-7	breast:
2	chr1:151735784..151737318-chr1:151808411..151810675,2	MCF-7	breast:
3	chr1:151509575..151514119-chr1:151809649..151812293,5	MCF-7	breast:
4	chr1:151804539..151806807-chr1:151808292..151812161,4	K562	blood:
5	chr1:19410890..19413871-chr1:151808457..151811077,2	MCF-7	breast:
6	chr1:151808355..151810594-chr1:151852540..151855427,2	MCF-7	breast:
7	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
8	chr1:151717253..151722089-chr1:151808382..151812448,4	MCF-7	breast:
9	chr1:151764210..151765820-chr1:151809530..151811612,2	MCF-7	breast:
10	chr1:151808068..151810311-chr1:151964159..151966593,4	MCF-7	breast:
11	chr1:151430044..151432386-chr1:151809146..151811411,2	MCF-7	breast:
12	chr1:151795525..151798477-chr1:151809091..151811611,2	MCF-7	breast:
13	chr1:151809368..151811108-chr1:151856031..151858705,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234614	TF binding region
ENSG00000232536	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000206980	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000197747	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10788810	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10888438	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10888439	0.87[ASN][1000 genomes]
rs12029913	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2130529	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6587622	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6667460	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7551686	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv3360539	chr1:151809753-151812301	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151802400-151810400	Weak transcription	Right Atrium	heart
2	chr1:151802800-151811000	Enhancers	Placenta	Placenta
3	chr1:151804400-151810600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:151804600-151812000	Enhancers	Pancreas	Pancrea
5	chr1:151805200-151810400	Weak transcription	Lung	lung
6	chr1:151805200-151810600	Enhancers	Dnd41	blood
7	chr1:151805400-151810400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:151805600-151811200	Weak transcription	Brain Angular Gyrus	brain
9	chr1:151806000-151810400	Weak transcription	Esophagus	oesophagus
10	chr1:151806200-151810400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:151806200-151811000	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:151806400-151811800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:151807000-151810800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:151807200-151810600	Enhancers	Liver	Liver
15	chr1:151808200-151810400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:151808400-151810400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:151808400-151810400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
18	chr1:151808400-151810800	Enhancers	HMEC	breast
19	chr1:151808600-151810400	Enhancers	NHEK	skin
20	chr1:151808800-151810400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:151808800-151810400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:151808800-151810800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:151808800-151810800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:151808800-151811200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:151809000-151812000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr1:151809200-151810400	Bivalent Enhancer	Fetal Lung	lung
27	chr1:151809200-151810800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:151809200-151811200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:151809400-151810400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:151809400-151810400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr1:151809400-151810600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:151809400-151810600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:151809400-151810600	Bivalent Enhancer	Fetal Thymus	thymus
34	chr1:151809600-151810400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:151809600-151810400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr1:151809600-151810400	Bivalent Enhancer	Thymus	Thymus
37	chr1:151809600-151810600	Bivalent Enhancer	Fetal Intestine Large	intestine
38	chr1:151809600-151810600	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr1:151809600-151810600	Enhancers	HSMM	muscle
40	chr1:151809600-151810800	Bivalent Enhancer	Primary B cells from cord blood	blood
41	chr1:151809600-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:151809800-151810400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
43	chr1:151809800-151810400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:151809800-151810400	Bivalent Enhancer	GM12878-XiMat	blood
45	chr1:151809800-151810600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr1:151809800-151810800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
47	chr1:151810000-151810400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
48	chr1:151810000-151810400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr1:151810000-151810400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:151810000-151810400	Enhancers	Primary T cells from cord blood	blood

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