Variant report

Variant	rs1269714
Chromosome Location	chr8:103035943-103035944
allele	A/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	SRF	chr8:103035870-103036361	ECC-1	luminal epithelium:	n/a	chr8:103036133-103036151 chr8:103036135-103036148 chr8:103036136-103036147
3	TEAD4	chr8:103035927-103036390	ECC-1	luminal epithelium:	n/a	n/a
4	TEAD4	chr8:103035879-103036277	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUND	chr8:103035933-103036270	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr8:103035874-103036364	ECC-1	luminal epithelium:	n/a	n/a
7	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:
2	chr8:103019479..103022018-chr8:103033247..103036105,2	MCF-7	breast:

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

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10105250	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10505016	0.86[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs1269713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1269715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1269716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1351063	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2187193	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2226768	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2387330	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2860153	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4734051	0.88[ASN][1000 genomes]
rs4734610	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4734611	0.97[ASN][1000 genomes]
rs4734613	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6468808	0.88[ASN][1000 genomes]
rs7006931	0.88[ASN][1000 genomes]
rs7357558	0.95[ASN][1000 genomes]
rs7829974	0.89[ASN][1000 genomes]
rs7833943	0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][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:36 , 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	chr8:103034600-103036000	Enhancers	Stomach Smooth Muscle	stomach
13	chr8:103034600-103036400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr8:103034600-103037000	Enhancers	NHDF-Ad	bronchial
15	chr8:103035000-103036200	Enhancers	Psoas Muscle	Psoas
16	chr8:103035000-103037200	Enhancers	HSMMtube	muscle
17	chr8:103035000-103037400	Enhancers	Placenta	Placenta
18	chr8:103035000-103037600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:103035000-103037800	Enhancers	Aorta	Aorta
20	chr8:103035200-103036200	Enhancers	Left Ventricle	heart
21	chr8:103035200-103036400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:103035200-103037000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:103035400-103036400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:103035400-103036600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:103035400-103036600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:103035400-103036600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr8:103035600-103036000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:103035600-103036800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:103035600-103037000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:103035600-103038800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:103035800-103036200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:103035800-103036400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:103035800-103036600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:103035800-103036800	Enhancers	NHLF	lung
35	chr8:103035800-103037000	Enhancers	Colon Smooth Muscle	Colon
36	chr8:103035800-103037000	Enhancers	Fetal Lung	lung

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