Variant report

Variant	rs6696674
Chromosome Location	chr1:62352948-62352949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10889259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10889260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10889264	1.00[AFR][1000 genomes]
rs11207853	1.00[AFR][1000 genomes]
rs17252430	1.00[AMR][1000 genomes]
rs2498986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2498990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2498993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4915600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6656709	1.00[AMR][1000 genomes]
rs6656711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6687261	1.00[AMR][1000 genomes]
rs7512340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7522779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7536831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7548755	1.00[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	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830004	chr1:62242944-62382228	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62228600-62391800	Weak transcription	Small Intestine	intestine
2	chr1:62312800-62353200	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:62317800-62390400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:62319000-62373800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:62320800-62353200	Weak transcription	A549	lung
6	chr1:62321600-62353200	Weak transcription	Adipose Nuclei	Adipose
7	chr1:62323800-62355200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:62324400-62361000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:62325000-62357400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:62330400-62361000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:62331600-62371800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:62331800-62384200	Weak transcription	Gastric	stomach
13	chr1:62336000-62408600	Weak transcription	Pancreas	Pancrea
14	chr1:62336200-62362400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:62336400-62360200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:62336600-62380000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:62336800-62356400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:62339800-62353000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:62339800-62353000	Weak transcription	Fetal Stomach	stomach
20	chr1:62339800-62353200	Weak transcription	Psoas Muscle	Psoas
21	chr1:62339800-62353400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:62339800-62356800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:62339800-62361200	Weak transcription	Lung	lung
24	chr1:62340400-62399200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:62341400-62361000	Weak transcription	Brain Substantia Nigra	brain
26	chr1:62342400-62358400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:62342600-62353200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:62342600-62361000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:62344000-62362200	Weak transcription	Right Ventricle	heart
30	chr1:62344400-62367000	Weak transcription	Colonic Mucosa	Colon
31	chr1:62346000-62353400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:62346000-62389400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:62346200-62417600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:62346800-62358800	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:62348200-62360600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:62348600-62361000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:62350200-62397600	Weak transcription	Esophagus	oesophagus
38	chr1:62350400-62361000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:62350600-62353000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:62350600-62356400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:62350600-62360000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:62350600-62380200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:62350600-62391600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:62350600-62428200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:62350800-62353000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:62350800-62353000	Weak transcription	NHEK	skin
47	chr1:62350800-62353200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:62350800-62353800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:62350800-62354000	Weak transcription	HepG2	liver
50	chr1:62350800-62354400	Weak transcription	Fetal Intestine Large	intestine

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