Variant report

Variant	rs7829418
Chromosome Location	chr8:90767189-90767190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:90766937-90767582	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr8:90766975-90767374	MCF10A-Er-Src	breast:	n/a	chr8:90767063-90767076
3	KAP1	chr8:90767067-90767495	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90766999..90771986-chr8:90912842..90916534,13	MCF-7	breast:
2	chr8:90767168..90772413-chr8:90911120..90917480,11	K562	blood:
3	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
4	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
5	chr8:90753685..90756450-chr8:90766720..90768459,2	MCF-7	breast:
6	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:

Variant related genes	Relation type
RIPK2	TF binding region
ENSG00000251136	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10504882	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10504883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16900480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900581	0.90[ASN][1000 genomes]
rs16900589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16900711	0.90[ASN][1000 genomes]
rs2293807	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs383592	0.84[YRI][hapmap]
rs40544	0.86[YRI][hapmap]
rs42490	0.84[YRI][hapmap]
rs55697113	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55702923	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55881928	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55914077	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55945927	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56118532	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56275901	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs56302550	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56716125	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56793332	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57701764	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58330617	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58972679	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59312383	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59581432	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59678171	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59924471	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59941801	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59988473	1.00[ASN][1000 genomes]
rs60183011	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60327583	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60651842	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60691618	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60772522	1.00[ASN][1000 genomes]
rs60959735	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61017576	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs61044501	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61258433	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61450435	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61662505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6998044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7010806	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73694459	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs73694461	0.97[ASN][1000 genomes]
rs73694462	0.97[ASN][1000 genomes]
rs73694463	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694485	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694486	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694487	0.90[ASN][1000 genomes]
rs73694488	0.90[ASN][1000 genomes]
rs73694490	0.90[ASN][1000 genomes]
rs73694492	0.90[ASN][1000 genomes]
rs73694493	0.90[ASN][1000 genomes]
rs73694496	0.85[ASN][1000 genomes]
rs7817339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7839470	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7839478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9721216	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90741600-90768200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:90742600-90767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:90746200-90767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:90749600-90768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:90749800-90767800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:90749800-90768000	Weak transcription	Left Ventricle	heart
7	chr8:90749800-90768000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:90750000-90769000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:90755000-90767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:90756400-90769200	Weak transcription	Pancreas	Pancrea
11	chr8:90758400-90769000	Weak transcription	Ovary	ovary
12	chr8:90760000-90768200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:90760200-90768000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:90760400-90767800	Weak transcription	Fetal Lung	lung
15	chr8:90760600-90768800	Weak transcription	Fetal Kidney	kidney
16	chr8:90760600-90769000	Weak transcription	HSMM	muscle
17	chr8:90762000-90767400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:90762000-90767400	Weak transcription	Fetal Heart	heart
19	chr8:90762600-90767400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:90762600-90768200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:90762600-90768200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:90762600-90768800	Weak transcription	Aorta	Aorta
23	chr8:90762600-90769200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:90763000-90768000	Weak transcription	Liver	Liver
25	chr8:90763600-90768800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:90763800-90767400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:90764000-90768200	Weak transcription	Placenta	Placenta
28	chr8:90764400-90767400	Weak transcription	NHEK	skin
29	chr8:90765400-90771600	Active TSS	GM12878-XiMat	blood
30	chr8:90766200-90772400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:90766400-90767200	Enhancers	Colon Smooth Muscle	Colon
32	chr8:90766400-90767400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:90766400-90768000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr8:90766400-90771400	Active TSS	K562	blood
35	chr8:90766600-90767200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:90766600-90767200	Enhancers	A549	lung
37	chr8:90766600-90767400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:90766600-90767600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:90766600-90768000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:90766600-90768000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr8:90766600-90768400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr8:90766600-90771200	Active TSS	NHLF	lung
43	chr8:90766800-90767400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:90766800-90767400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:90766800-90767400	Weak transcription	Adipose Nuclei	Adipose
46	chr8:90766800-90767400	Enhancers	Osteobl	bone
47	chr8:90766800-90767600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr8:90766800-90767600	Active TSS	Right Atrium	heart
49	chr8:90766800-90767600	Enhancers	HUVEC	blood vessel
50	chr8:90766800-90767600	Active TSS	NH-A	brain

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