Variant report

Variant	rs16893091
Chromosome Location	chr8:120759870-120759871
allele	C/G/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	RUNX3	chr8:120759549-120760141	GM12878	blood:	n/a	n/a
2	NFIC	chr8:120759642-120760143	GM12878	blood:	n/a	n/a
3	BATF	chr8:120759693-120759967	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120759692..120761466-chr8:120761943..120763911,2	MCF-7	breast:
2	chr8:120747351..120749314-chr8:120758018..120760610,2	K562	blood:

Variant related genes	Relation type
TAF2	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10095185	0.85[YRI][hapmap]
rs10097757	0.85[YRI][hapmap]
rs10099163	0.85[YRI][hapmap]
rs10102508	0.85[YRI][hapmap]
rs10109941	0.85[YRI][hapmap]
rs6990166	0.85[YRI][hapmap]
rs9693192	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120719400-120779600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:120733800-120768600	Weak transcription	Colonic Mucosa	Colon
3	chr8:120734600-120779600	Weak transcription	Gastric	stomach
4	chr8:120736400-120767200	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:120736600-120779600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:120736600-120779800	Weak transcription	Aorta	Aorta
7	chr8:120736600-120779800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:120737600-120779000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:120737800-120779600	Weak transcription	Lung	lung
10	chr8:120741000-120779600	Weak transcription	Pancreas	Pancrea
11	chr8:120741400-120763200	Weak transcription	Right Ventricle	heart
12	chr8:120742200-120780800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:120742400-120768200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:120742400-120778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:120742400-120779400	Weak transcription	Esophagus	oesophagus
16	chr8:120742400-120782600	Weak transcription	Fetal Heart	heart
17	chr8:120742600-120812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:120744000-120814600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:120744400-120760600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:120744400-120768800	Weak transcription	Fetal Brain Female	brain
21	chr8:120744400-120771800	Weak transcription	HepG2	liver
22	chr8:120744400-120779400	Weak transcription	Spleen	Spleen
23	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:120745400-120779000	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:120746800-120772200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:120747600-120760000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:120748600-120778800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:120748800-120764800	Weak transcription	GM12878-XiMat	blood
29	chr8:120749800-120760000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:120749800-120760000	Strong transcription	Dnd41	blood
31	chr8:120750400-120760000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:120750600-120760400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:120750800-120760000	Strong transcription	Fetal Thymus	thymus
34	chr8:120750800-120779600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:120750800-120780200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr8:120751000-120760800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:120751000-120768200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:120751200-120772000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr8:120751400-120761000	Strong transcription	Primary T cells from cord blood	blood
40	chr8:120751800-120772800	Weak transcription	NHLF	lung
41	chr8:120752000-120760000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:120752200-120760000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:120752200-120761000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr8:120752400-120760000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr8:120752600-120778600	Weak transcription	Thymus	Thymus
46	chr8:120752800-120767200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:120753000-120760800	Strong transcription	HSMM	muscle
48	chr8:120753400-120760000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:120753600-120760000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr8:120753800-120766800	Weak transcription	Rectal Smooth Muscle	rectum

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