Variant report

Variant	rs8020907
Chromosome Location	chr14:104285434-104285435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104283950..104288304-chr14:104311020..104314888,6	MCF-7	breast:
2	chr14:104284106..104288227-chr14:104321092..104325164,4	MCF-7	breast:
3	chr14:104283064..104288845-chr14:104312229..104317250,12	MCF-7	breast:
4	chr14:104283781..104286466-chr14:104308578..104310779,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000088808	Chromatin interaction
ENSG00000258735	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11845983	1.00[EUR][1000 genomes]
rs11848174	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849022	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17101760	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17101763	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17101767	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2024668	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2274265	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3212031	0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212049	0.92[ASN][1000 genomes]
rs3212056	0.92[ASN][1000 genomes]
rs3212058	0.92[ASN][1000 genomes]
rs3212064	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212071	0.92[ASN][1000 genomes]
rs3212078	0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212086	0.92[ASN][1000 genomes]
rs3212106	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212112	0.92[ASN][1000 genomes]
rs3212117	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212121	0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212133	0.84[ASN][1000 genomes]
rs34100926	0.92[ASN][1000 genomes]
rs35905888	1.00[ASN][1000 genomes]
rs3736911	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3742362	0.84[ASN][1000 genomes]
rs3742368	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3742464	0.84[ASN][1000 genomes]
rs3783406	0.84[ASN][1000 genomes]
rs55650682	0.92[ASN][1000 genomes]
rs55958706	0.92[ASN][1000 genomes]
rs56064032	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56726433	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58899741	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58909811	0.84[ASN][1000 genomes]
rs6576001	1.00[EUR][1000 genomes]
rs73350554	1.00[EUR][1000 genomes]
rs73350559	1.00[EUR][1000 genomes]
rs73350560	1.00[EUR][1000 genomes]
rs73350561	1.00[EUR][1000 genomes]
rs73350562	1.00[EUR][1000 genomes]
rs73350566	1.00[EUR][1000 genomes]
rs74085289	1.00[ASN][1000 genomes]
rs74086586	1.00[EUR][1000 genomes]
rs74086597	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74088714	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006755	1.00[EUR][1000 genomes]
rs8007670	1.00[ASW][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap]
rs8009618	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs8011745	1.00[EUR][1000 genomes]
rs8018770	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8021384	1.00[ASN][1000 genomes]
rs9282879	0.92[ASN][1000 genomes]
rs9707589	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
9	nsv902320	chr14:104274294-104308095	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104268600-104285600	Weak transcription	Lung	lung
2	chr14:104271000-104285600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:104276000-104286000	Weak transcription	Stomach Mucosa	stomach
4	chr14:104280800-104294800	Weak transcription	Small Intestine	intestine
5	chr14:104282000-104286200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:104283000-104288400	Enhancers	Fetal Heart	heart
7	chr14:104283200-104287400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr14:104283400-104287000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr14:104283600-104285600	Weak transcription	GM12878-XiMat	blood
10	chr14:104283600-104286000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:104283800-104285600	Weak transcription	Fetal Lung	lung
12	chr14:104284000-104287200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:104284200-104285600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr14:104284200-104287400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:104284400-104286000	Weak transcription	Psoas Muscle	Psoas
16	chr14:104284400-104286400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr14:104284400-104287400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:104284600-104286000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:104284600-104286600	Enhancers	Gastric	stomach
20	chr14:104284600-104287200	Enhancers	Pancreas	Pancrea
21	chr14:104284600-104287400	Enhancers	Left Ventricle	heart
22	chr14:104284800-104286000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr14:104284800-104286000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr14:104284800-104287200	Enhancers	Right Ventricle	heart
25	chr14:104285000-104286000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:104285000-104286000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr14:104285400-104287000	Enhancers	Brain Substantia Nigra	brain
28	chr14:104285400-104287000	Enhancers	Right Atrium	heart
29	chr14:104285400-104287400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr14:104285400-104287600	Enhancers	Liver	Liver

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