Variant report

Variant	rs2185838
Chromosome Location	chr1:151505708-151505709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151505137..151506886-chr1:151734570..151737122,2	K562	blood:
2	chr1:151481429..151491154-chr1:151502501..151517487,49	MCF-7	breast:
3	chr1:151500037..151502742-chr1:151505383..151507173,2	K562	blood:
4	chr1:151431065..151432568-chr1:151504882..151506568,2	K562	blood:
5	chr1:151494134..151498303-chr1:151504253..151506959,4	MCF-7	breast:
6	1:151171193-151178589..1:151496437-151509688	Hela-S3	cervix:
7	chr1:151477348..151494376-chr1:151504804..151515249,50	MCF-7	breast:
8	1:151496437-151509688..1:151592347-151603110	Hela-S3	cervix:
9	1:151402394-151411623..1:151496437-151509688	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143436	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000252840	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11204848	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12217027	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12746522	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12746531	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3790507	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4132646	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4970961	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4970962	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6587597	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6673116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691736	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9645404	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151484600-151512000	Weak transcription	Right Atrium	heart
2	chr1:151485200-151511800	Weak transcription	Fetal Brain Female	brain
3	chr1:151485800-151511800	Weak transcription	Brain Germinal Matrix	brain
4	chr1:151485800-151512200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:151486600-151511800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:151486800-151512200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:151487000-151511800	Weak transcription	Small Intestine	intestine
8	chr1:151489200-151507000	Weak transcription	NHEK	skin
9	chr1:151489200-151507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:151491600-151509000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:151492000-151507400	Weak transcription	Stomach Mucosa	stomach
12	chr1:151493200-151507600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:151493400-151511800	Weak transcription	Brain Anterior Caudate	brain
14	chr1:151493400-151511800	Weak transcription	Ovary	ovary
15	chr1:151493400-151512200	Weak transcription	Fetal Kidney	kidney
16	chr1:151493600-151511200	Strong transcription	Fetal Intestine Large	intestine
17	chr1:151494400-151511800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:151495200-151506200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:151495400-151511200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:151495400-151511400	Strong transcription	Liver	Liver
21	chr1:151495600-151511000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:151497600-151510200	Strong transcription	Fetal Intestine Small	intestine
23	chr1:151498000-151511800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:151498200-151505800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:151498200-151508800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:151499800-151508600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:151499800-151511000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr1:151500000-151511000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:151500000-151511000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:151500800-151510800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:151501200-151511000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:151501800-151510800	Strong transcription	Pancreas	Pancrea
33	chr1:151502400-151509800	Weak transcription	Brain Angular Gyrus	brain
34	chr1:151502600-151511800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:151503000-151507200	Weak transcription	Brain Substantia Nigra	brain
36	chr1:151503200-151507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:151503200-151508600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:151503200-151508600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:151503400-151506000	Weak transcription	Lung	lung
40	chr1:151503400-151507600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:151503400-151508000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:151503400-151508000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:151503400-151508000	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:151503400-151511800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:151503400-151512400	Weak transcription	Esophagus	oesophagus
46	chr1:151503400-151512800	Weak transcription	Aorta	Aorta
47	chr1:151503600-151506200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:151503800-151507400	Weak transcription	Colonic Mucosa	Colon
49	chr1:151504200-151511800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:151504400-151506400	Weak transcription	Rectal Mucosa Donor 31	rectum

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