Variant report

Variant	rs60717214
Chromosome Location	chr1:161952131-161952132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161951565..161953317-chr1:161954989..161957643,2	K562	blood:
2	chr1:161951407..161954246-chr1:161954300..161956489,3	K562	blood:

Variant related genes	Relation type
ENSG00000162745	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12047759	0.82[AFR][1000 genomes]
rs16823450	0.89[AFR][1000 genomes]
rs16832939	0.86[AFR][1000 genomes]
rs16846658	0.82[AFR][1000 genomes]
rs60437935	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1007108	chr1:161925814-162002917	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv548078	chr1:161941219-161980502	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161904800-161956600	Weak transcription	Fetal Brain Male	brain
2	chr1:161932400-161955400	Weak transcription	Brain Substantia Nigra	brain
3	chr1:161933600-161953400	Weak transcription	HSMMtube	muscle
4	chr1:161937600-161954800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:161939200-161956600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:161940800-161952200	Weak transcription	Aorta	Aorta
7	chr1:161944200-161953800	Weak transcription	Esophagus	oesophagus
8	chr1:161944400-161952200	Weak transcription	NHDF-Ad	bronchial
9	chr1:161944400-161953400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:161944400-161953600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:161944400-161964000	Weak transcription	Ovary	ovary
12	chr1:161944600-161952200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:161944600-161953400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:161944600-161953400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:161945200-161952800	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:161948400-161955000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:161950800-161952800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:161950800-161955400	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:161951200-161953400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:161951200-161953600	Genic enhancers	Fetal Muscle Leg	muscle
21	chr1:161951200-161955000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:161951200-161955400	Weak transcription	Placenta	Placenta
23	chr1:161951200-161957000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:161951400-161953400	Weak transcription	Gastric	stomach
25	chr1:161951400-161953600	Weak transcription	Right Atrium	heart
26	chr1:161951400-161953600	Weak transcription	NHLF	lung
27	chr1:161951600-161952200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:161951600-161952200	Bivalent Enhancer	HMEC	breast
29	chr1:161951800-161952800	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr1:161951800-161955000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:161952000-161952200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:161952000-161952400	Bivalent Enhancer	Fetal Stomach	stomach
33	chr1:161952000-161952600	ZNF genes & repeats	Lung	lung
34	chr1:161952000-161953000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:161952000-161953600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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