Variant report

Variant	rs16868893
Chromosome Location	chr8:103036197-103036198
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	SP1	chr8:103035930-103036325	H1-hESC	embryonic stem cell:	n/a	n/a
2	EP300	chr8:103035993-103036251	H1-hESC	embryonic stem cell:	n/a	chr8:103036141-103036150
3	SRF	chr8:103035870-103036361	ECC-1	luminal epithelium:	n/a	chr8:103036133-103036151 chr8:103036135-103036148 chr8:103036136-103036147
4	TEAD4	chr8:103035927-103036390	ECC-1	luminal epithelium:	n/a	n/a
5	SRF	chr8:103035959-103036295	H1-hESC	embryonic stem cell:	n/a	chr8:103036133-103036151 chr8:103036135-103036148 chr8:103036136-103036147
6	TEAD4	chr8:103035879-103036277	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr8:103035933-103036270	H1-hESC	embryonic stem cell:	n/a	n/a
8	TEAD4	chr8:103035874-103036364	ECC-1	luminal epithelium:	n/a	n/a
9	TEAD4	chr8:103035906-103036321	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103032420..103035113-chr8:103035889..103038603,2	MCF-7	breast:

Variant related genes	Relation type
NCALD	TF binding region
ENSG00000104490	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10089091	1.00[CEU][hapmap]
rs10090732	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10091084	0.84[EUR][1000 genomes]
rs10102923	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105502	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs10505017	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1269711	0.88[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1269712	0.97[EUR][1000 genomes]
rs1992330	0.91[CEU][hapmap];0.81[TSI][hapmap]
rs2023268	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs2023269	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs2387331	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs28379664	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680363	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34417909	0.81[EUR][1000 genomes]
rs4734049	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4734050	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4734052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734607	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs4734609	1.00[CEU][hapmap]
rs55837041	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59321812	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60389438	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6468809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72679088	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814225	0.84[EUR][1000 genomes]
rs7814951	1.00[CEU][hapmap]
rs7818772	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7837198	0.91[CEU][hapmap];0.88[CHB][hapmap]
rs9297317	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs9656850	0.88[EUR][1000 genomes]
rs984928	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs9886578	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv891231	chr8:103001914-103076379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv891234	chr8:103020391-103113701	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103026400-103038800	Weak transcription	Right Ventricle	heart
2	chr8:103028800-103036400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:103030600-103037400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:103030600-103038600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:103030600-103045000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:103032000-103036800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:103033800-103037600	Enhancers	Ovary	ovary
8	chr8:103034000-103036200	Enhancers	Fetal Heart	heart
9	chr8:103034200-103036400	Enhancers	Fetal Muscle Leg	muscle
10	chr8:103034200-103037400	Enhancers	Fetal Stomach	stomach
11	chr8:103034400-103039000	Weak transcription	Lung	lung
12	chr8:103034600-103036400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr8:103034600-103037000	Enhancers	NHDF-Ad	bronchial
14	chr8:103035000-103036200	Enhancers	Psoas Muscle	Psoas
15	chr8:103035000-103037200	Enhancers	HSMMtube	muscle
16	chr8:103035000-103037400	Enhancers	Placenta	Placenta
17	chr8:103035000-103037600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:103035000-103037800	Enhancers	Aorta	Aorta
19	chr8:103035200-103036200	Enhancers	Left Ventricle	heart
20	chr8:103035200-103036400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:103035200-103037000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:103035400-103036400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:103035400-103036600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:103035400-103036600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:103035400-103036600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:103035600-103036800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:103035600-103037000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:103035600-103038800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:103035800-103036200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:103035800-103036400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:103035800-103036600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:103035800-103036800	Enhancers	NHLF	lung
33	chr8:103035800-103037000	Enhancers	Colon Smooth Muscle	Colon
34	chr8:103035800-103037000	Enhancers	Fetal Lung	lung
35	chr8:103036000-103036200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:103036000-103036200	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr8:103036000-103036600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:103036000-103036600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr8:103036000-103041400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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