Variant report

Variant	rs2170935
Chromosome Location	chr4:85718948-85718949
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:85713800..85716169-chr4:85718069..85720303,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10007879	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11097024	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11097026	0.82[AMR][1000 genomes]
rs12511112	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13145705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1385263	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1484660	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17009247	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17009249	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2046402	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2046404	0.83[AMR][1000 genomes]
rs2218323	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2869216	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3098928	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4529041	0.83[EUR][1000 genomes]
rs6531775	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67045782	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6835046	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6839516	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6847067	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6857555	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6858666	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72664926	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72664934	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7668460	0.83[EUR][1000 genomes]
rs7685537	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv532738	chr4:85590841-85777997	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv427684	chr4:85668487-85863446	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv966528	chr4:85715067-85726976	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85619200-85726000	Weak transcription	Hela-S3	cervix
2	chr4:85683800-85732000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr4:85684800-85725000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:85688800-85725600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:85690000-85722000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:85690800-85725600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:85691000-85724800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:85696400-85757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:85697400-85772800	Weak transcription	Small Intestine	intestine
10	chr4:85698000-85724600	Strong transcription	Liver	Liver
11	chr4:85700200-85724600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:85701600-85783000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:85702200-85732200	Weak transcription	Spleen	Spleen
14	chr4:85703800-85721800	Weak transcription	Gastric	stomach
15	chr4:85704200-85722000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:85704200-85739800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:85704400-85722000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:85704600-85724400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:85705200-85721000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:85705200-85722000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:85705200-85722000	Weak transcription	Pancreas	Pancrea
22	chr4:85705200-85722800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:85705200-85725400	Weak transcription	Aorta	Aorta
24	chr4:85705200-85735200	Weak transcription	A549	lung
25	chr4:85705400-85770000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:85705800-85721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:85707200-85725200	Weak transcription	Stomach Mucosa	stomach
28	chr4:85707400-85722000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:85708600-85731000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:85708600-85777400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:85708800-85721800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:85708800-85722000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:85708800-85741200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:85709000-85719800	Weak transcription	NHEK	skin
35	chr4:85709000-85721800	Weak transcription	Brain Germinal Matrix	brain
36	chr4:85709000-85721800	Weak transcription	Brain Substantia Nigra	brain
37	chr4:85709000-85721800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:85709000-85722000	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:85709000-85722000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:85709000-85722000	Weak transcription	HepG2	liver
41	chr4:85709000-85722000	Weak transcription	NHLF	lung
42	chr4:85709000-85722800	Weak transcription	Fetal Heart	heart
43	chr4:85709000-85722800	Weak transcription	Lung	lung
44	chr4:85709000-85731000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:85709000-85769600	Weak transcription	Right Ventricle	heart
46	chr4:85709000-85781600	Weak transcription	Esophagus	oesophagus
47	chr4:85709200-85721800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:85709200-85749000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:85709200-85770200	Weak transcription	Psoas Muscle	Psoas
50	chr4:85709800-85721400	Weak transcription	Brain Anterior Caudate	brain

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