Variant report

Variant	rs17640598
Chromosome Location	chr1:151524275-151524276
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151511607..151517154-chr1:151519761..151524773,6	K562	blood:
2	1:151516085-151535167..1:151592347-151603110	GM12878	blood:
3	chr1:151519173..151521651-chr1:151523857..151526108,3	MCF-7	breast:
4	chr1:151481542..151488437-chr1:151515636..151525415,14	MCF-7	breast:
5	chr1:151524039..151526579-chr1:151544817..151547592,2	MCF-7	breast:
6	chr1:151483462..151487382-chr1:151518217..151524477,9	MCF-7	breast:
7	chr1:151520439..151521960-chr1:151523867..151525775,2	K562	blood:
8	1:151402394-151411623..1:151516085-151535167	GM12878	blood:
9	chr1:151522558..151525413-chr1:151540386..151543231,3	MCF-7	breast:
10	1:151171193-151178589..1:151516085-151535167	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000238711	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143367	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11204844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12037928	0.81[JPT][hapmap]
rs12044926	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1418823	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs16833376	0.81[EUR][1000 genomes]
rs17640579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35342887	0.81[EUR][1000 genomes]
rs55840963	0.84[EUR][1000 genomes]
rs72692715	0.83[EUR][1000 genomes]
rs72692719	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv946387	chr1:151521876-151530261	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 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	chr1:151514400-151540800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:151514400-151556800	Weak transcription	Fetal Brain Male	brain
3	chr1:151515600-151534400	Weak transcription	Brain Germinal Matrix	brain
4	chr1:151519600-151524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:151520200-151524600	Weak transcription	Right Atrium	heart
6	chr1:151520200-151534200	Weak transcription	Fetal Stomach	stomach
7	chr1:151520200-151536600	Weak transcription	Ovary	ovary
8	chr1:151520400-151534200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:151520400-151535800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:151520400-151536600	Weak transcription	Adipose Nuclei	Adipose
11	chr1:151520400-151536800	Weak transcription	Aorta	Aorta
12	chr1:151520600-151536000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:151520600-151536800	Weak transcription	Lung	lung
14	chr1:151520600-151542000	Weak transcription	Right Ventricle	heart
15	chr1:151520600-151545200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:151520800-151535600	Weak transcription	Colonic Mucosa	Colon
17	chr1:151520800-151535600	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:151521600-151537800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:151521600-151538600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:151521800-151541800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:151521800-151559000	Weak transcription	Small Intestine	intestine
22	chr1:151522000-151525600	Genic enhancers	NHEK	skin
23	chr1:151522000-151526800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:151522000-151533000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:151522000-151534200	Weak transcription	Pancreas	Pancrea
26	chr1:151522000-151534800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:151522000-151535000	Weak transcription	HSMMtube	muscle
28	chr1:151522000-151536600	Weak transcription	Esophagus	oesophagus
29	chr1:151522000-151537600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:151522200-151525600	Weak transcription	HSMM	muscle
31	chr1:151522200-151525800	Weak transcription	Osteobl	bone
32	chr1:151522200-151526000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:151522200-151526000	Weak transcription	NH-A	brain
34	chr1:151522200-151526000	Weak transcription	NHLF	lung
35	chr1:151522200-151536200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:151522200-151537800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:151522200-151537800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:151522400-151526000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:151522400-151534200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:151522400-151540800	Weak transcription	Stomach Mucosa	stomach
41	chr1:151522600-151525400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:151522600-151525400	Weak transcription	HMEC	breast
43	chr1:151522600-151526400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:151522600-151526400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:151522600-151534400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:151522600-151534600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:151522600-151536000	Weak transcription	Hela-S3	cervix
48	chr1:151522600-151536400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:151522800-151534200	Weak transcription	Fetal Intestine Large	intestine
50	chr1:151522800-151534400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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