Variant report

Variant	rs74085066
Chromosome Location	chr1:67192061-67192062
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67166132..67168879-chr1:67189803..67192452,2	K562	blood:
2	chr1:67072874..67073739-chr1:67191676..67192371,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17129341	0.88[AFR][1000 genomes]
rs17129376	0.88[AFR][1000 genomes]
rs17129384	0.88[AFR][1000 genomes]
rs17129385	1.00[AFR][1000 genomes]
rs17129386	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv997677	chr1:67186675-67194280	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67157000-67208800	Weak transcription	Brain Germinal Matrix	brain
2	chr1:67165400-67206800	Weak transcription	Fetal Brain Male	brain
3	chr1:67171400-67198000	Weak transcription	NHLF	lung
4	chr1:67184800-67199400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:67186400-67205000	Weak transcription	Fetal Heart	heart
6	chr1:67188600-67217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:67189400-67192200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:67189600-67192200	Enhancers	Brain Hippocampus Middle	brain
9	chr1:67190000-67193800	Weak transcription	NH-A	brain
10	chr1:67190200-67201200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:67190600-67193600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:67190600-67195000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:67191000-67192200	Enhancers	Liver	Liver
14	chr1:67191200-67192200	Enhancers	Brain Substantia Nigra	brain
15	chr1:67191200-67192200	Enhancers	Osteobl	bone
16	chr1:67191200-67192400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:67191200-67192800	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:67191200-67193400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:67191400-67192200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:67191400-67192600	Enhancers	Dnd41	blood
21	chr1:67191400-67192600	Enhancers	NHDF-Ad	bronchial
22	chr1:67191400-67193200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:67191400-67195000	Enhancers	HUVEC	blood vessel
24	chr1:67191600-67192200	Enhancers	Fetal Kidney	kidney
25	chr1:67191600-67192200	Enhancers	Thymus	Thymus
26	chr1:67191600-67195400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:67191800-67193200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:67191800-67196200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:67191800-67204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:67191800-67204800	Weak transcription	Lung	lung
31	chr1:67192000-67192200	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr1:67192000-67193000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:67192000-67194600	Weak transcription	Primary T cells from cord blood	blood
34	chr1:67192000-67194800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:67192000-67194800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:67192000-67195800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:67192000-67195800	Weak transcription	Fetal Brain Female	brain
38	chr1:67192000-67196200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:67192000-67197800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:67192000-67204600	Weak transcription	Aorta	Aorta
41	chr1:67192000-67204800	Weak transcription	Left Ventricle	heart
42	chr1:67192000-67217200	Weak transcription	Brain Angular Gyrus	brain
43	chr1:67192000-67217400	Weak transcription	Brain Inferior Temporal Lobe	brain

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