Variant report

Variant	rs8023112
Chromosome Location	chr14:56052544-56052545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56052261..56055376-chr14:56058166..56061190,4	K562	blood:
2	chr14:56050224..56053643-chr14:56057156..56060698,4	MCF-7	breast:
3	chr14:56050702..56052550-chr14:56072121..56074340,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10129990	1.00[EUR][1000 genomes]
rs10132721	1.00[EUR][1000 genomes]
rs10151466	1.00[EUR][1000 genomes]
rs10151733	1.00[EUR][1000 genomes]
rs17128493	1.00[EUR][1000 genomes]
rs17128496	1.00[EUR][1000 genomes]
rs17128594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128629	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128634	1.00[EUR][1000 genomes]
rs17128635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128636	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128672	1.00[EUR][1000 genomes]
rs60318423	1.00[EUR][1000 genomes]
rs61106193	1.00[EUR][1000 genomes]
rs7142744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285833	1.00[EUR][1000 genomes]
rs73287725	1.00[AMR][1000 genomes]
rs8008958	1.00[EUR][1000 genomes]
rs8011213	1.00[EUR][1000 genomes]
rs8015485	1.00[EUR][1000 genomes]
rs9743909	1.00[EUR][1000 genomes]

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	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56048200-56054200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr14:56048200-56068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:56048400-56052800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:56048400-56055200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr14:56048400-56056000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:56048400-56068400	Weak transcription	Esophagus	oesophagus
7	chr14:56048400-56086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:56048600-56052800	Weak transcription	Thymus	Thymus
9	chr14:56048600-56053000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr14:56048600-56053600	Enhancers	Osteobl	bone
11	chr14:56048600-56054000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:56048600-56055400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr14:56048600-56055400	Enhancers	Liver	Liver
14	chr14:56048600-56058400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:56048600-56060400	Weak transcription	Brain Substantia Nigra	brain
16	chr14:56048600-56070800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:56048800-56055000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr14:56049200-56055200	Enhancers	Primary T cells from cord blood	blood
19	chr14:56049600-56053000	Enhancers	Fetal Intestine Small	intestine
20	chr14:56050000-56056000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr14:56050000-56056400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:56050400-56053200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:56050400-56053200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:56050400-56053400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:56050400-56053400	Enhancers	Small Intestine	intestine
26	chr14:56050400-56056200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr14:56050400-56056400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:56050600-56053600	Enhancers	Psoas Muscle	Psoas
29	chr14:56050600-56055000	Enhancers	A549	lung
30	chr14:56050800-56052600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:56050800-56052800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:56051000-56055000	Weak transcription	Fetal Muscle Leg	muscle
33	chr14:56051000-56056800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr14:56051200-56052600	Weak transcription	Brain Angular Gyrus	brain
35	chr14:56051200-56052600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:56051200-56052600	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:56051200-56052600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:56051200-56052600	Enhancers	Right Ventricle	heart
39	chr14:56051200-56052600	Weak transcription	HMEC	breast
40	chr14:56051200-56052800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:56051200-56052800	Weak transcription	Aorta	Aorta
42	chr14:56051200-56053000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:56051200-56057200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:56051200-56057600	Weak transcription	Spleen	Spleen
45	chr14:56051200-56058000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:56051200-56060200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:56051200-56066200	Weak transcription	Colonic Mucosa	Colon
48	chr14:56051200-56069000	Weak transcription	Primary B cells from cord blood	blood
49	chr14:56051400-56052600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr14:56051400-56052600	Weak transcription	Fetal Kidney	kidney

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