Variant report

Variant	rs67235598
Chromosome Location	chr8:96220310-96220311
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	chr8:96100067..96101759-chr8:96219152..96221642,2	MCF-7	breast:
2	chr8:96218443..96220891-chr8:96249353..96251227,2	MCF-7	breast:
3	chr8:96219891..96220818-chr8:96235921..96236731,3	MCF-7	breast:
4	chr8:96145115..96147475-chr8:96218834..96220773,2	MCF-7	breast:
5	chr8:96218170..96221837-chr8:96222580..96225075,3	MCF-7	breast:
6	chr8:96217038..96220399-chr8:96221117..96225068,5	MCF-7	breast:
7	chr8:96220160..96222982-chr8:96225240..96226907,2	K562	blood:
8	chr8:96202933..96207621-chr8:96217016..96224905,7	MCF-7	breast:
9	chr8:96219891..96220754-chr8:96235921..96236812,8	MCF-7	breast:
10	chr8:96218874..96220553-chr8:96227342..96228870,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253351	Chromatin interaction
ENSG00000254248	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11987379	0.88[EUR][1000 genomes]
rs11987491	0.89[EUR][1000 genomes]
rs13250256	0.89[EUR][1000 genomes]
rs13253679	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13257907	0.89[EUR][1000 genomes]
rs13259025	0.88[EUR][1000 genomes]
rs13260846	0.90[EUR][1000 genomes]
rs13261245	0.88[EUR][1000 genomes]
rs13270120	0.88[EUR][1000 genomes]
rs4236832	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734300	0.87[EUR][1000 genomes]
rs7012668	0.89[EUR][1000 genomes]
rs734666	0.87[EUR][1000 genomes]
rs7825383	0.84[EUR][1000 genomes]
rs7825673	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv516035	chr8:96208726-96235451	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465740	chr8:96211820-96235451	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv611758	chr8:96211820-96235451	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96214200-96226400	Weak transcription	Right Atrium	heart
2	chr8:96214400-96233400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:96215200-96220400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:96215800-96220800	Weak transcription	Primary B cells from cord blood	blood
5	chr8:96215800-96220800	Weak transcription	Thymus	Thymus
6	chr8:96217200-96220600	Weak transcription	Gastric	stomach
7	chr8:96218800-96227000	Enhancers	Pancreas	Pancrea
8	chr8:96219400-96220600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:96219400-96221400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:96219400-96222400	Enhancers	Placenta	Placenta
11	chr8:96219400-96229600	Enhancers	Fetal Thymus	thymus
12	chr8:96219800-96225600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:96220000-96220400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:96220000-96220400	Enhancers	NHEK	skin
16	chr8:96220000-96220600	Bivalent Enhancer	HepG2	liver
17	chr8:96220000-96220600	Enhancers	HMEC	breast
18	chr8:96220000-96220800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:96220000-96220800	Enhancers	Esophagus	oesophagus
20	chr8:96220000-96220800	Enhancers	Ovary	ovary
21	chr8:96220000-96220800	Enhancers	Right Ventricle	heart
22	chr8:96220000-96221000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:96220000-96221400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr8:96220000-96221600	Enhancers	Left Ventricle	heart
25	chr8:96220000-96221800	Enhancers	Fetal Muscle Trunk	muscle
26	chr8:96220000-96223200	Enhancers	Fetal Muscle Leg	muscle
27	chr8:96220000-96224200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr8:96220000-96227200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:96220200-96220600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:96220200-96223000	Weak transcription	Spleen	Spleen
31	chr8:96220200-96225600	Enhancers	K562	blood

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