Variant report

Variant	rs12676683
Chromosome Location	chr8:19613524-19613525
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19169020..19171370-chr8:19612921..19614479,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104611	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10503665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888172	0.84[AMR][1000 genomes]
rs11204071	0.84[AMR][1000 genomes]
rs12547438	0.84[AMR][1000 genomes]
rs12676952	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17091371	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35130684	1.00[ASN][1000 genomes]
rs35450343	1.00[ASN][1000 genomes]
rs4262337	1.00[ASN][1000 genomes]
rs4921674	1.00[ASN][1000 genomes]
rs4921676	1.00[ASN][1000 genomes]
rs73594409	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv3343914	chr8:19613297-19615845	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19603800-19613800	Weak transcription	Ovary	ovary
2	chr8:19604600-19614000	Weak transcription	Aorta	Aorta
3	chr8:19604800-19614000	Weak transcription	Spleen	Spleen
4	chr8:19610800-19613800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:19610800-19613800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:19611800-19614000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:19612000-19614000	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr8:19612600-19614000	Bivalent/Poised TSS	Fetal Brain Male	brain
9	chr8:19612600-19615200	Active TSS	Brain Anterior Caudate	brain
10	chr8:19612600-19615600	Active TSS	A549	lung
11	chr8:19613000-19613600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:19613000-19613800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:19613000-19613800	Bivalent Enhancer	Fetal Thymus	thymus
14	chr8:19613000-19613800	Bivalent Enhancer	HepG2	liver
15	chr8:19613000-19614000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:19613000-19614200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr8:19613000-19614400	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr8:19613000-19616000	Active TSS	Brain Hippocampus Middle	brain
19	chr8:19613200-19613600	Active TSS	Brain Cingulate Gyrus	brain
20	chr8:19613200-19613600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr8:19613200-19613600	Flanking Active TSS	Osteobl	bone
22	chr8:19613200-19613800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr8:19613200-19613800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:19613200-19613800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:19613200-19613800	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr8:19613200-19614000	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr8:19613200-19614000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr8:19613200-19614000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr8:19613200-19614000	Flanking Active TSS	Hela-S3	cervix
30	chr8:19613200-19614200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr8:19613200-19614200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
32	chr8:19613200-19614200	Active TSS	Psoas Muscle	Psoas
33	chr8:19613200-19614400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr8:19613200-19614400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
35	chr8:19613200-19615200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:19613200-19615200	Active TSS	Placenta	Placenta
37	chr8:19613200-19615800	Active TSS	Right Atrium	heart
38	chr8:19613200-19616400	Active TSS	Brain Substantia Nigra	brain
39	chr8:19613400-19613600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr8:19613400-19613600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:19613400-19613600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr8:19613400-19613600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr8:19613400-19613600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
44	chr8:19613400-19613600	Flanking Bivalent TSS/Enh	Thymus	Thymus
45	chr8:19613400-19613800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr8:19613400-19613800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
47	chr8:19613400-19613800	Bivalent/Poised TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:19613400-19613800	Enhancers	Pancreas	Pancrea
49	chr8:19613400-19614000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr8:19613400-19614000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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