Variant report

Variant	rs16900617
Chromosome Location	chr8:90802491-90802492
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90801163..90803261-chr8:90961126..90962760,2	MCF-7	breast:
2	chr8:90802147..90804411-chr8:90807957..90809553,2	MCF-7	breast:
3	chr8:90794527..90798218-chr8:90801291..90805045,3	K562	blood:
4	chr8:90801295..90805562-chr8:90810503..90814895,4	MCF-7	breast:
5	chr8:90801418..90803391-chr8:90808526..90811319,2	MCF-7	breast:
6	chr8:90769927..90772219-chr8:90802189..90804618,2	MCF-7	breast:
7	chr8:90800083..90802743-chr8:90803621..90807196,3	MCF-7	breast:
8	chr8:90801184..90803292-chr8:90992105..90995010,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10504882	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10504883	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]
rs13312854	1.00[MEX][hapmap]
rs13312862	1.00[MEX][hapmap]
rs13312891	1.00[MEX][hapmap]
rs16900025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16900480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900581	1.00[ASN][1000 genomes]
rs16900589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900592	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900593	0.92[ASW][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap]
rs16900677	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16900711	1.00[ASN][1000 genomes]
rs2293807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2308961	1.00[MEX][hapmap]
rs383592	0.83[LWK][hapmap];0.90[YRI][hapmap]
rs39499	0.81[YRI][hapmap]
rs40544	0.90[YRI][hapmap]
rs42490	0.83[LWK][hapmap];0.90[YRI][hapmap]
rs431264	0.80[LWK][hapmap];0.84[YRI][hapmap]
rs55697113	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55702923	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55881928	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55914077	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55945927	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56118532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56275901	0.87[ASN][1000 genomes]
rs56302550	0.90[ASN][1000 genomes]
rs56716125	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56793332	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57701764	0.90[ASN][1000 genomes]
rs58330617	0.90[ASN][1000 genomes]
rs58972679	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59312383	0.90[ASN][1000 genomes]
rs59581432	0.90[ASN][1000 genomes]
rs59678171	0.90[ASN][1000 genomes]
rs59924471	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59941801	0.90[ASN][1000 genomes]
rs59988473	0.90[ASN][1000 genomes]
rs60183011	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60327583	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60651842	0.90[ASN][1000 genomes]
rs60691618	0.90[ASN][1000 genomes]
rs60772522	0.90[ASN][1000 genomes]
rs60959735	0.90[ASN][1000 genomes]
rs61017576	0.81[ASN][1000 genomes]
rs61044501	0.87[ASN][1000 genomes]
rs61258433	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61450435	0.90[ASN][1000 genomes]
rs61662505	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6998044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7010806	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73694459	0.87[ASN][1000 genomes]
rs73694461	0.87[ASN][1000 genomes]
rs73694462	0.87[ASN][1000 genomes]
rs73694463	0.85[ASN][1000 genomes]
rs73694485	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694486	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694487	1.00[ASN][1000 genomes]
rs73694488	1.00[ASN][1000 genomes]
rs73694490	1.00[ASN][1000 genomes]
rs73694492	1.00[ASN][1000 genomes]
rs73694493	1.00[ASN][1000 genomes]
rs73694496	0.95[ASN][1000 genomes]
rs769417	1.00[MEX][hapmap]
rs7813347	1.00[MEX][hapmap]
rs7817339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7823648	1.00[MEX][hapmap]
rs7829418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7830914	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7839470	0.87[ASN][1000 genomes]
rs7839478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9721216	0.88[ASN][1000 genomes]
rs9969533	1.00[MEX][hapmap]

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	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
5	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90771600-90803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:90771800-90805000	Weak transcription	Esophagus	oesophagus
3	chr8:90772200-90805200	Weak transcription	Fetal Brain Male	brain
4	chr8:90772200-90807200	Weak transcription	Pancreas	Pancrea
5	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
6	chr8:90773000-90806800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:90773000-90812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:90774200-90803600	Weak transcription	Fetal Heart	heart
9	chr8:90775800-90807200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:90781400-90806600	Weak transcription	Right Ventricle	heart
11	chr8:90781800-90805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:90783600-90803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
14	chr8:90785600-90813800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:90785800-90807200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:90785800-90810800	Weak transcription	Fetal Brain Female	brain
17	chr8:90786000-90813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:90786400-90809800	Weak transcription	HepG2	liver
19	chr8:90792000-90804200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:90792200-90802600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:90792200-90805800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:90793600-90806400	Strong transcription	Liver	Liver
23	chr8:90795000-90803400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:90795000-90805400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:90795000-90808400	Weak transcription	NHEK	skin
26	chr8:90795200-90804600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:90795200-90805400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:90795600-90806400	Strong transcription	Adipose Nuclei	Adipose
29	chr8:90796200-90807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:90796600-90802800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:90796600-90803000	Strong transcription	Placenta	Placenta
32	chr8:90796600-90806400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:90796800-90802600	Strong transcription	Fetal Muscle Leg	muscle
34	chr8:90796800-90802600	Strong transcription	Lung	lung
35	chr8:90797000-90802600	Strong transcription	Fetal Intestine Large	intestine
36	chr8:90797000-90802600	Strong transcription	Left Ventricle	heart
37	chr8:90797200-90808400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:90797400-90804000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:90797600-90803800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:90797800-90802600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:90798000-90806200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:90798000-90806200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:90798000-90806400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr8:90798000-90806600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr8:90798400-90803000	Strong transcription	Brain Cingulate Gyrus	brain
46	chr8:90798400-90805600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr8:90798600-90802600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:90798600-90804000	Weak transcription	Brain Germinal Matrix	brain
49	chr8:90798800-90802600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr8:90798800-90803600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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