Variant report

Variant	rs34301717
Chromosome Location	chr8:61627226-61627227
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	chr8:61623114..61624707-chr8:61626809..61628509,2	MCF-7	breast:
2	chr8:61603796..61605326-chr8:61626958..61629344,2	MCF-7	breast:
3	chr8:61625213..61627892-chr8:61636447..61639072,2	K562	blood:
4	chr8:61626599..61628181-chr8:61670107..61672141,2	MCF-7	breast:
5	chr8:61619832..61624344-chr8:61624507..61628732,6	MCF-7	breast:
6	chr8:61590503..61594203-chr8:61625080..61629360,7	MCF-7	breast:
7	chr12:54388367..54389240-chr8:61626620..61627546,2	Hela-S3	cervix:
8	chr8:61591174..61593947-chr8:61626496..61632032,7	MCF-7	breast:
9	chr8:61626795..61628526-chr8:61628668..61632012,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction
ENSG00000197757	Chromatin interaction
ENSG00000180806	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13261519	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs13269361	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13275837	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs16926379	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16926398	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34833917	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35777815	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6471895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7013969	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:94 , 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	chr8:61621400-61632200	Weak transcription	HepG2	liver
4	chr8:61621600-61628000	Weak transcription	K562	blood
5	chr8:61621600-61628200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:61621600-61628400	Weak transcription	Brain Angular Gyrus	brain
7	chr8:61621600-61634200	Weak transcription	Primary T cells from cord blood	blood
8	chr8:61621600-61636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:61621800-61628000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:61621800-61628400	Weak transcription	HSMMtube	muscle
11	chr8:61621800-61638200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:61622000-61628200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:61622000-61628800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:61622200-61631400	Weak transcription	Primary B cells from cord blood	blood
15	chr8:61623200-61627400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:61623200-61628400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:61623200-61635800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:61623400-61627400	Weak transcription	Psoas Muscle	Psoas
19	chr8:61623400-61628000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:61623400-61628400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:61623400-61632400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:61623400-61633000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:61623800-61627400	Weak transcription	Brain Substantia Nigra	brain
24	chr8:61623800-61628200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:61624000-61628400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:61624200-61628400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:61626000-61627600	Active TSS	Colon Smooth Muscle	Colon
28	chr8:61626000-61627600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr8:61626200-61627400	Active TSS	Brain Anterior Caudate	brain
30	chr8:61626200-61627400	Active TSS	Ovary	ovary
31	chr8:61626200-61627400	Active TSS	Stomach Smooth Muscle	stomach
32	chr8:61626200-61627600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:61626200-61627600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:61626200-61627600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:61626200-61627600	Active TSS	Colonic Mucosa	Colon
36	chr8:61626200-61627600	Active TSS	Duodenum Mucosa	Duodenum
37	chr8:61626200-61627800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr8:61626200-61627800	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr8:61626200-61627800	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr8:61626200-61628000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr8:61626200-61629200	Enhancers	Primary B cells from peripheral blood	blood
42	chr8:61626400-61627400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:61626400-61627600	Active TSS	Adipose Nuclei	Adipose
44	chr8:61626400-61627600	Active TSS	Fetal Intestine Large	intestine
45	chr8:61626400-61627600	Active TSS	Hela-S3	cervix
46	chr8:61626400-61627600	Active TSS	Osteobl	bone
47	chr8:61626400-61627800	Active TSS	Fetal Intestine Small	intestine
48	chr8:61626400-61627800	Active TSS	Fetal Kidney	kidney
49	chr8:61626400-61627800	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr8:61626400-61628000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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