Variant report

Variant	rs485102
Chromosome Location	chr10:96989328-96989329
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:96983667..96985290-chr10:96987249..96989514,2	MCF-7	breast:
2	chr10:96989099..96991002-chr10:97047738..97051859,4	MCF-7	breast:
3	chr10:96988601..96990244-chr10:96996425..96998002,2	K562	blood:

Variant related genes	Relation type
ENSG00000107438	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11188241	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11188242	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376873	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1620060	0.85[CEU][hapmap]
rs57693248	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs601746	0.80[YRI][hapmap]
rs619297	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs626465	0.85[CEU][hapmap];0.80[YRI][hapmap]
rs650243	0.85[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs656155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs680829	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs682349	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs684203	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs686705	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs701889	0.84[AFR][1000 genomes]
rs815241	0.80[YRI][hapmap]
rs9651411	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv21432	chr10:96856006-96996043	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv1834151	chr10:96925446-96992955	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96944200-96990400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr10:96956200-96990400	Weak transcription	Aorta	Aorta
3	chr10:96961800-96989400	Weak transcription	Primary T cells from cord blood	blood
4	chr10:96962000-96990000	Weak transcription	Fetal Intestine Small	intestine
5	chr10:96965400-96989400	Weak transcription	Fetal Intestine Large	intestine
6	chr10:96969200-96990200	Weak transcription	Left Ventricle	heart
7	chr10:96969400-96990400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:96970200-96992400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr10:96971800-96989400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:96972600-96989600	Weak transcription	Fetal Thymus	thymus
11	chr10:96975400-96990200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr10:96975600-96990000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:96976000-96990000	Weak transcription	Primary B cells from cord blood	blood
14	chr10:96976400-96989600	Weak transcription	GM12878-XiMat	blood
15	chr10:96980200-96989400	Weak transcription	Fetal Heart	heart
16	chr10:96982400-96990200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr10:96984600-96990400	Weak transcription	Esophagus	oesophagus
18	chr10:96985200-96989400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:96986400-96990400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr10:96987000-96990200	Weak transcription	Right Ventricle	heart
21	chr10:96987400-96990800	Enhancers	NHDF-Ad	bronchial
22	chr10:96987800-96989400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr10:96987800-96991000	Enhancers	HMEC	breast
24	chr10:96988000-96989400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr10:96988000-96989400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr10:96988000-96989800	Enhancers	HSMMtube	muscle
27	chr10:96988000-96990000	Weak transcription	Fetal Kidney	kidney
28	chr10:96988000-96990400	Enhancers	HSMM	muscle
29	chr10:96988000-96990800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:96988200-96989600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:96988200-96989800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:96988200-96990400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:96988200-96990400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:96988200-96990400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:96988400-96989400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr10:96988400-96990600	Enhancers	Hela-S3	cervix
37	chr10:96988600-96989800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:96988600-96990000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:96988600-96990200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:96988600-96990200	Weak transcription	Liver	Liver
41	chr10:96988600-96990400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:96988800-96989400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr10:96988800-96989800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:96988800-96990600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr10:96989000-96989400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:96989000-96989600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr10:96989200-96989400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr10:96989200-96989600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr10:96989200-96989600	Weak transcription	NHLF	lung
50	chr10:96989200-96989600	Flanking Active TSS	Osteobl	bone

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