Variant report

Variant	rs74137521
Chromosome Location	chr1:186807932-186807933
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	chr1:186797730..186800562-chr1:186805737..186808248,2	K562	blood:

Variant related genes	Relation type
ENSG00000116711	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs5274	1.00[AMR][1000 genomes]
rs56306057	0.91[AFR][1000 genomes]
rs59949256	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137510	0.84[AFR][1000 genomes]
rs74137516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137517	1.00[AMR][1000 genomes]
rs74137518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr1:186799400-186810600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:186800200-186827800	Weak transcription	NHEK	skin
3	chr1:186801000-186818400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:186805800-186808600	Enhancers	Fetal Intestine Small	intestine
5	chr1:186806000-186809800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:186806000-186810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:186806200-186808200	Weak transcription	Pancreas	Pancrea
8	chr1:186806800-186808000	Enhancers	Hela-S3	cervix
9	chr1:186806800-186808800	Enhancers	Fetal Intestine Large	intestine
10	chr1:186806800-186809000	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr1:186807000-186808600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:186807000-186808600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:186807000-186808600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr1:186807000-186808600	Enhancers	Small Intestine	intestine
15	chr1:186807000-186808600	Enhancers	HUVEC	blood vessel
16	chr1:186807000-186808800	Enhancers	Fetal Kidney	kidney
17	chr1:186807000-186808800	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:186807000-186808800	Enhancers	Stomach Mucosa	stomach
19	chr1:186807000-186809000	Enhancers	Adipose Nuclei	Adipose
20	chr1:186807000-186809000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:186807200-186808600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:186807400-186808000	Enhancers	A549	lung
23	chr1:186807600-186808000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr1:186807600-186808000	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr1:186807600-186808400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:186807600-186808400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr1:186807600-186808400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:186807600-186809000	Enhancers	Primary B cells from cord blood	blood
29	chr1:186807600-186809000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:186807600-186812800	Enhancers	Colon Smooth Muscle	Colon
31	chr1:186807600-186814400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:186807800-186808200	Enhancers	Primary hematopoietic stem cells	blood
33	chr1:186807800-186808600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:186807800-186808800	Enhancers	NHDF-Ad	bronchial
35	chr1:186807800-186811400	Weak transcription	Brain Hippocampus Middle	brain

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