Variant report

Variant	rs12078687
Chromosome Location	chr1:154885095-154885096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154880349..154881948-chr1:154884492..154887038,2	K562	blood:
2	chr1:154885018..154887470-chr1:155022221..155024315,2	MCF-7	breast:
3	chr1:154882150..154887936-chr1:154908082..154910802,7	MCF-7	breast:
4	chr1:154884926..154886519-chr1:154892159..154893677,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270361	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000163344	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10127993	1.00[AMR][1000 genomes]
rs11264285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059540	1.00[MEX][hapmap]
rs12064595	1.00[MEX][hapmap]
rs12092479	1.00[MEX][hapmap]
rs16836525	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232635	1.00[MEX][hapmap]
rs60707099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9236	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv464073	chr1:154837796-154904840	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv547960	chr1:154837796-154904840	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv2977	chr1:154881053-154907613	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154879200-154893200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:154879800-154894800	Weak transcription	Aorta	Aorta
3	chr1:154880400-154894400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:154881400-154894800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:154881600-154895800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:154882200-154891200	Weak transcription	Fetal Stomach	stomach
7	chr1:154882400-154897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:154882600-154889200	Weak transcription	Fetal Intestine Small	intestine
9	chr1:154882800-154897400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:154883200-154887200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:154883400-154894800	Weak transcription	Primary T cells from cord blood	blood
12	chr1:154883600-154886800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:154883600-154893200	Weak transcription	Liver	Liver
14	chr1:154883600-154895000	Weak transcription	Placenta	Placenta
15	chr1:154883800-154885200	Enhancers	Right Ventricle	heart
16	chr1:154883800-154886800	Enhancers	Fetal Heart	heart
17	chr1:154883800-154894800	Weak transcription	Brain Germinal Matrix	brain
18	chr1:154884000-154893400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:154884000-154894600	Weak transcription	Gastric	stomach
20	chr1:154884000-154895200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:154884000-154897800	Weak transcription	HMEC	breast
22	chr1:154884200-154886800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:154884200-154887200	Enhancers	Left Ventricle	heart
24	chr1:154884400-154885800	Strong transcription	Fetal Brain Female	brain
25	chr1:154884600-154887000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:154884600-154887000	Weak transcription	NHEK	skin
27	chr1:154884600-154887200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:154884600-154894800	Weak transcription	Adipose Nuclei	Adipose
29	chr1:154884800-154887000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:154884800-154894800	Weak transcription	Brain Substantia Nigra	brain
31	chr1:154884800-154894800	Weak transcription	Spleen	Spleen
32	chr1:154884800-154896200	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:154884800-154908400	Weak transcription	Psoas Muscle	Psoas
34	chr1:154885000-154885400	Strong transcription	Lung	lung
35	chr1:154885000-154886400	Weak transcription	Right Atrium	heart
36	chr1:154885000-154889200	Weak transcription	GM12878-XiMat	blood
37	chr1:154885000-154892600	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:154885000-154894800	Weak transcription	Esophagus	oesophagus
39	chr1:154885000-154895000	Weak transcription	Brain Anterior Caudate	brain
40	chr1:154885000-154895000	Weak transcription	Ovary	ovary

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