Variant report

Variant	rs16841865
Chromosome Location	chr1:197645086-197645087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197637854..197639785-chr1:197643428..197645113,2	K562	blood:
2	chr1:197644483..197647407-chr1:197649632..197652293,2	K562	blood:
3	chr1:197623895..197625439-chr1:197644828..197646522,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11799366	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11800199	1.00[AMR][1000 genomes]
rs11801895	1.00[AMR][1000 genomes]
rs11802251	1.00[AMR][1000 genomes]
rs11802844	1.00[AMR][1000 genomes]
rs11802940	1.00[AMR][1000 genomes]
rs11802964	1.00[AMR][1000 genomes]
rs11803371	1.00[AMR][1000 genomes]
rs11803914	1.00[AMR][1000 genomes]
rs11804057	1.00[AMR][1000 genomes]
rs11804072	1.00[AMR][1000 genomes]
rs11804259	1.00[AMR][1000 genomes]
rs11805327	1.00[AMR][1000 genomes]
rs11805755	1.00[AMR][1000 genomes]
rs11805812	1.00[AMR][1000 genomes]
rs11805909	1.00[AMR][1000 genomes]
rs11806117	0.88[YRI][hapmap]
rs11806221	1.00[AMR][1000 genomes]
rs11806278	1.00[AMR][1000 genomes]
rs11806385	1.00[AMR][1000 genomes]
rs11806645	1.00[AMR][1000 genomes]
rs11806651	1.00[AMR][1000 genomes]
rs11806821	1.00[AMR][1000 genomes]
rs11807556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11807717	1.00[AMR][1000 genomes]
rs11809220	1.00[AMR][1000 genomes]
rs11809987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811376	1.00[AMR][1000 genomes]
rs16841475	1.00[AMR][1000 genomes]
rs16841531	1.00[AMR][1000 genomes]
rs16841850	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841889	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841893	0.89[YRI][hapmap]
rs34240488	1.00[AMR][1000 genomes]
rs35781299	1.00[AMR][1000 genomes]
rs6657488	1.00[AMR][1000 genomes]
rs6666890	1.00[AMR][1000 genomes]
rs6667162	1.00[AMR][1000 genomes]
rs6667565	1.00[AMR][1000 genomes]
rs6703514	1.00[AMR][1000 genomes]
rs6703515	1.00[AMR][1000 genomes]
rs7522037	1.00[AMR][1000 genomes]
rs7533154	1.00[AMR][1000 genomes]
rs7535981	1.00[AMR][1000 genomes]
rs7543290	1.00[AMR][1000 genomes]
rs7554788	1.00[AMR][1000 genomes]
rs9661515	1.00[AMR][1000 genomes]

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	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv873077	chr1:197615391-197698103	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197629000-197645200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:197640800-197647000	Weak transcription	Small Intestine	intestine
3	chr1:197640800-197657600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:197642800-197645400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:197642800-197645800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:197642800-197646800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:197643200-197645600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:197643400-197645400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:197643800-197646800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:197644000-197656000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:197644200-197645600	Enhancers	Fetal Brain Female	brain
12	chr1:197644200-197645800	Enhancers	Fetal Brain Male	brain
13	chr1:197644400-197645200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:197644400-197645400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:197644400-197645600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:197644600-197645200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:197644600-197645200	Active TSS	Adipose Nuclei	Adipose
18	chr1:197644600-197645200	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:197644600-197645200	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr1:197644600-197645200	Active TSS	HMEC	breast
21	chr1:197644600-197645200	Active TSS	HUVEC	blood vessel
22	chr1:197644600-197645200	Active TSS	NHEK	skin
23	chr1:197644600-197645200	Active TSS	NHLF	lung
24	chr1:197644600-197645200	Active TSS	Osteobl	bone
25	chr1:197644600-197645400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:197644600-197645400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:197644600-197645400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr1:197644600-197645400	Active TSS	Right Atrium	heart
29	chr1:197644600-197645400	Active TSS	Monocytes-CD14+_RO01746	blood
30	chr1:197644600-197645600	Enhancers	Fetal Heart	heart
31	chr1:197644600-197646400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:197644800-197645200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:197644800-197645200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr1:197644800-197645200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:197644800-197645200	Active TSS	Muscle Satellite Cultured Cells	--
36	chr1:197644800-197645200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:197644800-197645200	Active TSS	Liver	Liver
38	chr1:197644800-197645200	Enhancers	Brain Anterior Caudate	brain
39	chr1:197644800-197645200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr1:197644800-197645200	Active TSS	Duodenum Mucosa	Duodenum
41	chr1:197644800-197645200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr1:197644800-197645200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:197644800-197645200	Active TSS	Fetal Intestine Large	intestine
44	chr1:197644800-197645200	Active TSS	Fetal Intestine Small	intestine
45	chr1:197644800-197645200	Active TSS	Fetal Lung	lung
46	chr1:197644800-197645200	Active TSS	Ovary	ovary
47	chr1:197644800-197645200	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr1:197644800-197645200	Active TSS	NH-A	brain
49	chr1:197644800-197645400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:197644800-197645400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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