Variant report

Variant	rs34345692
Chromosome Location	chr8:61637002-61637003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61625213..61627892-chr8:61636447..61639072,2	K562	blood:
2	chr8:61634749..61636426-chr8:61636462..61638471,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10088263	0.82[ASN][1000 genomes]
rs1038353	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957159	0.88[ASN][1000 genomes]
rs10957160	0.88[ASN][1000 genomes]
rs11775560	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12056700	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13255052	0.91[ASN][1000 genomes]
rs13278198	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2326597	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34022185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35149496	0.93[ASN][1000 genomes]
rs35254359	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35914442	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471900	0.91[ASN][1000 genomes]
rs6987611	0.86[ASN][1000 genomes]
rs6988835	0.88[ASN][1000 genomes]
rs6989150	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6994642	0.82[ASN][1000 genomes]
rs7460516	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823926	0.86[ASN][1000 genomes]
rs7833957	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7846314	0.98[ASN][1000 genomes]
rs9298041	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv6219	chr8:61599770-61644558	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61615600-61644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61621200-61646400	Weak transcription	Fetal Brain Male	brain
3	chr8:61621800-61638200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:61627600-61637200	Weak transcription	HMEC	breast
5	chr8:61627800-61638200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:61627800-61644400	Weak transcription	Fetal Kidney	kidney
7	chr8:61629000-61637600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:61630200-61637400	Weak transcription	Stomach Mucosa	stomach
9	chr8:61631400-61637800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:61631400-61638200	Weak transcription	A549	lung
11	chr8:61631800-61637600	Weak transcription	Gastric	stomach
12	chr8:61632400-61637600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:61633800-61638000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:61634200-61637600	Weak transcription	Lung	lung
15	chr8:61634400-61638200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:61634400-61643400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:61634400-61643400	Weak transcription	HepG2	liver
18	chr8:61634600-61638000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:61634600-61638600	Enhancers	Brain Hippocampus Middle	brain
20	chr8:61634800-61638200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:61634800-61638200	Weak transcription	Right Atrium	heart
22	chr8:61634800-61640400	Weak transcription	Left Ventricle	heart
23	chr8:61634800-61647000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:61635000-61637600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:61635000-61637600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:61635000-61654200	Weak transcription	Fetal Intestine Small	intestine
27	chr8:61635600-61639000	Enhancers	Brain Substantia Nigra	brain
28	chr8:61635600-61641200	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:61635800-61637800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:61635800-61637800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:61635800-61638000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:61635800-61638400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr8:61635800-61638400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr8:61636000-61637200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:61636000-61637200	Enhancers	Fetal Lung	lung
36	chr8:61636000-61637800	Enhancers	Brain Cingulate Gyrus	brain
37	chr8:61636000-61637800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr8:61636000-61638600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:61636000-61638600	Enhancers	Right Ventricle	heart
40	chr8:61636000-61638800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:61636000-61638800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:61636000-61638800	Enhancers	Psoas Muscle	Psoas
43	chr8:61636200-61637400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:61636200-61637800	Enhancers	K562	blood
45	chr8:61636200-61638400	Enhancers	Brain Angular Gyrus	brain
46	chr8:61636200-61640000	Enhancers	Primary B cells from cord blood	blood
47	chr8:61636400-61637200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr8:61636400-61637800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:61636400-61638000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr8:61636400-61638600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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