Variant report

Variant	rs12063375
Chromosome Location	chr1:185083282-185083283
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185082822..185085322-chr1:185089321..185090884,2	K562	blood:

Variant related genes	Relation type
ENSG00000121486	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1053166	0.84[AMR][1000 genomes]
rs12119759	0.82[AMR][1000 genomes]
rs12408074	0.92[EUR][1000 genomes]
rs12563135	0.92[EUR][1000 genomes]
rs12566404	0.83[AMR][1000 genomes]
rs2378957	0.88[EUR][1000 genomes]
rs34463352	0.98[EUR][1000 genomes]
rs34916432	0.81[AMR][1000 genomes]
rs35507672	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3820183	0.87[EUR][1000 genomes]
rs7523448	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv872588	chr1:185081903-185117688	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
2	chr1:185054400-185101800	Weak transcription	A549	lung
3	chr1:185055400-185096200	Weak transcription	Hela-S3	cervix
4	chr1:185056200-185124200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:185057600-185094600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:185058600-185089000	Weak transcription	Ovary	ovary
7	chr1:185058800-185093600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:185059000-185124800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:185065800-185088600	Weak transcription	NHDF-Ad	bronchial
10	chr1:185067800-185095400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:185068400-185110200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:185069400-185091000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:185069600-185088200	Weak transcription	Fetal Lung	lung
14	chr1:185070000-185101400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:185070200-185088800	Weak transcription	HSMM	muscle
16	chr1:185070400-185089200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:185073600-185088200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:185073600-185092800	Weak transcription	Fetal Kidney	kidney
19	chr1:185073600-185115000	Weak transcription	NH-A	brain
20	chr1:185073800-185088600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:185073800-185088600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:185074000-185088600	Weak transcription	NHLF	lung
23	chr1:185077400-185088200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:185077800-185086400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:185078800-185088800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:185078800-185102000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:185079800-185102000	Weak transcription	Small Intestine	intestine
28	chr1:185080000-185101000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:185081200-185091400	Weak transcription	GM12878-XiMat	blood
30	chr1:185081600-185091000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:185081800-185088600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:185081800-185088800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:185081800-185092800	Weak transcription	HUVEC	blood vessel
34	chr1:185082000-185085800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:185082000-185086000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:185082000-185088600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:185082000-185092800	Weak transcription	K562	blood
38	chr1:185082200-185088600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:185082200-185095200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:185082400-185085800	Weak transcription	Primary B cells from cord blood	blood
41	chr1:185082400-185086000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:185082400-185088800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:185082400-185093600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:185082600-185086400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:185082600-185088200	Weak transcription	Brain Substantia Nigra	brain
46	chr1:185082600-185100400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:185082600-185101400	Weak transcription	Esophagus	oesophagus
48	chr1:185082600-185125400	Weak transcription	Spleen	Spleen
49	chr1:185082800-185086400	Weak transcription	Dnd41	blood
50	chr1:185082800-185088200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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