Variant report

Variant	rs4401892
Chromosome Location	chr8:118930509-118930510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:118929621..118931886-chr8:118940149..118942806,2	MCF-7	breast:
2	chr8:118928857..118930921-chr8:118936919..118939329,2	MCF-7	breast:
3	chr8:118930438..118932126-chr8:119123387..119125000,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13252084	0.91[YRI][hapmap]
rs13265594	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2019967	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3101575	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3101576	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3101578	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3134312	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3134313	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4242577	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4480147	0.91[CHB][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4480148	0.86[YRI][hapmap]
rs4621831	0.86[YRI][hapmap]
rs4876768	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57705462	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6999867	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7004615	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7459527	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7825927	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7831208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118919200-118933200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:118922800-118932800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:118922800-118934800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:118923200-118933000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:118923800-118933800	Weak transcription	Fetal Stomach	stomach
6	chr8:118924000-118932800	Weak transcription	Ovary	ovary
7	chr8:118924000-118933000	Weak transcription	Lung	lung
8	chr8:118926000-118931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:118926000-118932800	Weak transcription	HSMMtube	muscle
10	chr8:118926400-118930800	Weak transcription	NHLF	lung
11	chr8:118926400-118932200	Weak transcription	NHEK	skin
12	chr8:118926400-118932600	Weak transcription	HSMM	muscle
13	chr8:118926400-118932600	Weak transcription	NH-A	brain
14	chr8:118927000-118935000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:118927200-118932600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:118927400-118932800	Weak transcription	Liver	Liver
17	chr8:118928200-118932600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:118928600-118930600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:118928600-118932800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:118928800-118931800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:118928800-118932800	Weak transcription	A549	lung
22	chr8:118929000-118932800	Weak transcription	GM12878-XiMat	blood
23	chr8:118929000-118933000	Weak transcription	Fetal Intestine Large	intestine
24	chr8:118929800-118930600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:118929800-118930800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:118929800-118931000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:118929800-118931000	Genic enhancers	Aorta	Aorta
28	chr8:118929800-118932000	Enhancers	NHDF-Ad	bronchial
29	chr8:118930000-118930600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:118930000-118930600	Genic enhancers	Osteobl	bone
31	chr8:118930000-118930800	Enhancers	Right Atrium	heart
32	chr8:118930000-118931000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:118930000-118931200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:118930000-118932000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:118930200-118930800	Enhancers	Adipose Nuclei	Adipose
36	chr8:118930200-118930800	Weak transcription	Pancreas	Pancrea
37	chr8:118930200-118931000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:118930200-118931400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:118930200-118932600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:118930400-118930800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:118930400-118931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:118930400-118931200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:118930400-118932000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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