Variant report

Variant	rs4735594
Chromosome Location	chr8:100031590-100031591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100030902..100033864-chr8:100036860..100038785,2	MCF-7	breast:
2	chr8:100023614..100025559-chr8:100031440..100033591,3	K562	blood:
3	chr8:100023962..100027338-chr8:100028316..100036117,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253948	Chromatin interaction
ENSG00000132549	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11984531	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11985354	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11985377	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11986138	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11986449	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11986652	0.83[ASN][1000 genomes]
rs11987297	0.97[ASN][1000 genomes]
rs11987308	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11987800	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11988364	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11989082	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989805	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990131	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990603	0.80[ASN][1000 genomes]
rs11990888	0.88[ASN][1000 genomes]
rs11993237	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995021	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995289	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11995381	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996944	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11997079	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997104	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11997495	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11998168	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998193	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11998245	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1447244	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897132	0.97[ASN][1000 genomes]
rs34930351	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35082816	0.87[ASN][1000 genomes]
rs35318343	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35755686	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4501558	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4585717	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734422	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734423	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734427	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4734428	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735583	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735584	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735586	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735587	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735588	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735590	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735593	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735595	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735596	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735598	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735605	0.88[ASN][1000 genomes]
rs4735606	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57231976	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672316	0.88[ASN][1000 genomes]
rs72672328	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72672329	0.83[ASN][1000 genomes]
rs72672337	0.83[ASN][1000 genomes]
rs72672342	0.83[ASN][1000 genomes]
rs745721	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814088	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814120	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814617	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818738	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7819606	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7829389	0.84[ASN][1000 genomes]
rs7832595	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv2758166	chr8:100028848-100196681	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv2759632	chr8:100028848-100196681	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100026200-100035400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:100026200-100036800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:100026200-100044000	Weak transcription	Esophagus	oesophagus
4	chr8:100026200-100047000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:100026200-100047000	Weak transcription	Gastric	stomach
6	chr8:100026200-100047200	Weak transcription	Small Intestine	intestine
7	chr8:100026200-100047600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:100026400-100031600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:100026400-100033800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:100026400-100036000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:100026400-100036200	Weak transcription	Psoas Muscle	Psoas
12	chr8:100026400-100036400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:100026400-100036400	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:100026400-100036400	Weak transcription	Thymus	Thymus
15	chr8:100026400-100036800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:100026400-100037400	Weak transcription	Stomach Mucosa	stomach
17	chr8:100026400-100039200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:100026400-100040600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:100026400-100044000	Weak transcription	Aorta	Aorta
20	chr8:100026400-100046200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:100026600-100031800	Weak transcription	Brain Anterior Caudate	brain
22	chr8:100026600-100038600	Weak transcription	Left Ventricle	heart
23	chr8:100026600-100043800	Weak transcription	Spleen	Spleen
24	chr8:100026600-100047000	Weak transcription	Lung	lung
25	chr8:100026600-100083800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:100026800-100031600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:100026800-100031800	Weak transcription	Fetal Heart	heart
28	chr8:100026800-100035600	Weak transcription	Brain Germinal Matrix	brain
29	chr8:100027000-100031600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:100027000-100031600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:100027000-100031600	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:100027000-100031800	Weak transcription	Liver	Liver
33	chr8:100027000-100031800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:100027000-100031800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:100027000-100031800	Weak transcription	A549	lung
36	chr8:100027000-100032200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:100027000-100032200	Weak transcription	HMEC	breast
38	chr8:100027000-100035200	Weak transcription	Brain Angular Gyrus	brain
39	chr8:100027000-100036000	Weak transcription	NHEK	skin
40	chr8:100027000-100036200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:100027000-100036400	Weak transcription	Ovary	ovary
42	chr8:100027000-100036400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:100027000-100036400	Weak transcription	HUVEC	blood vessel
44	chr8:100027000-100043800	Weak transcription	Fetal Stomach	stomach
45	chr8:100027000-100046200	Weak transcription	HSMMtube	muscle
46	chr8:100027000-100046200	Weak transcription	NH-A	brain
47	chr8:100027000-100046400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:100027200-100031600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:100027200-100031600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr8:100027200-100031600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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