Variant report

Variant	rs3101575
Chromosome Location	chr8:118939319-118939320
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	chr8:118931174..118933770-chr8:118938914..118940644,2	K562	blood:
2	chr8:118928857..118930921-chr8:118936919..118939329,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13265594	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2019967	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2514722	0.89[CHB][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs3101576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3101578	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3134312	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3134313	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4242577	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4401892	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4480147	0.82[CHB][hapmap]
rs4876768	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs57705462	0.88[ASN][1000 genomes]
rs6999867	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7459527	0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7825927	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7831208	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118933200-118943800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:118933200-118946600	Weak transcription	Gastric	stomach
3	chr8:118933400-118940800	Enhancers	Osteobl	bone
4	chr8:118933600-118940000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:118933600-118941400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:118933600-118945600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:118933600-118945800	Weak transcription	Right Atrium	heart
8	chr8:118933600-118946200	Weak transcription	Ovary	ovary
9	chr8:118933600-118946600	Weak transcription	Brain Germinal Matrix	brain
10	chr8:118933800-118939400	Weak transcription	Adipose Nuclei	Adipose
11	chr8:118933800-118939400	Weak transcription	Fetal Brain Male	brain
12	chr8:118933800-118946000	Weak transcription	Fetal Intestine Large	intestine
13	chr8:118934000-118940600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:118934600-118940200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:118935000-118940000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:118935200-118939800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:118935200-118940200	Weak transcription	Right Ventricle	heart
18	chr8:118935200-118940400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:118935200-118942400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:118935200-118946200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:118935200-118949800	Weak transcription	Psoas Muscle	Psoas
22	chr8:118935200-118958600	Weak transcription	Esophagus	oesophagus
23	chr8:118935400-118939800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:118936600-118940200	Weak transcription	A549	lung
25	chr8:118936600-118942400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:118937200-118939800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:118937600-118939400	Weak transcription	NHLF	lung
28	chr8:118937800-118939800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:118937800-118939800	Weak transcription	NHEK	skin
30	chr8:118937800-118942200	Enhancers	Liver	Liver
31	chr8:118938000-118949800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:118938200-118939400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:118938200-118940600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:118938400-118940400	Enhancers	Fetal Lung	lung
35	chr8:118938400-118940600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:118938400-118942400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:118938600-118940200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:118938600-118940600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:118938600-118940600	Enhancers	HSMM	muscle
40	chr8:118938800-118939400	Enhancers	Brain Angular Gyrus	brain
41	chr8:118938800-118939400	Enhancers	Fetal Muscle Leg	muscle
42	chr8:118938800-118939400	Enhancers	HSMMtube	muscle
43	chr8:118938800-118939400	Enhancers	HUVEC	blood vessel
44	chr8:118938800-118939600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:118938800-118940000	Enhancers	NHDF-Ad	bronchial
46	chr8:118938800-118940600	Enhancers	Aorta	Aorta
47	chr8:118938800-118941200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr8:118938800-118941600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:118938800-118942200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:118938800-118942400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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