Variant report

Variant	rs57834182
Chromosome Location	chr18:8628441-8628442
allele	A/C
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	POLR2A	chr18:8624540-8628909	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:8625509..8627110-chr18:8627947..8629473,2	MCF-7	breast:
2	chr18:8627643..8629642-chr18:8643038..8645267,2	MCF-7	breast:
3	chr18:8626888..8629769-chr18:8634935..8637660,2	K562	blood:

Variant related genes	Relation type
RAB12	TF binding region
ENSG00000266708	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11876907	0.96[EUR][1000 genomes]
rs1250161	0.98[EUR][1000 genomes]
rs7235110	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv2200	chr18:8618182-8663130	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8610600-8634400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:8616600-8634600	Weak transcription	NH-A	brain
3	chr18:8621000-8631200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr18:8621600-8633400	Weak transcription	Fetal Brain Male	brain
5	chr18:8621800-8633000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:8623400-8630800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
7	chr18:8623600-8640600	Strong transcription	Dnd41	blood
8	chr18:8624200-8629400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:8624200-8629600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:8624200-8631000	Weak transcription	Right Atrium	heart
11	chr18:8624200-8632000	Weak transcription	Right Ventricle	heart
12	chr18:8624200-8633400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr18:8624200-8633400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr18:8624200-8633600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr18:8624200-8638200	Weak transcription	Stomach Mucosa	stomach
16	chr18:8624200-8641200	Weak transcription	Small Intestine	intestine
17	chr18:8624600-8630800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
18	chr18:8624600-8631000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr18:8624600-8640200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr18:8624600-8640400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr18:8624600-8640800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:8624800-8628600	Enhancers	Brain Angular Gyrus	brain
23	chr18:8624800-8641600	Strong transcription	GM12878-XiMat	blood
24	chr18:8625000-8640600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr18:8625000-8640800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr18:8625000-8640800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr18:8625000-8641000	Strong transcription	Fetal Thymus	thymus
28	chr18:8625000-8641000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr18:8625000-8641600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:8625400-8629000	Enhancers	Brain Cingulate Gyrus	brain
31	chr18:8625400-8634400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:8625600-8629600	Strong transcription	Hela-S3	cervix
33	chr18:8625800-8628600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr18:8625800-8628600	Enhancers	Brain Anterior Caudate	brain
35	chr18:8625800-8630600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr18:8626000-8629400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:8626000-8629400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr18:8626000-8629400	Weak transcription	Esophagus	oesophagus
39	chr18:8626000-8629400	Weak transcription	Lung	lung
40	chr18:8626000-8633600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:8626200-8629400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr18:8626400-8629200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr18:8626400-8629400	Weak transcription	Ovary	ovary
44	chr18:8626400-8632400	Weak transcription	Spleen	Spleen
45	chr18:8626400-8633400	Weak transcription	A549	lung
46	chr18:8626400-8633600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr18:8626600-8628800	Enhancers	Brain Substantia Nigra	brain
48	chr18:8626600-8629200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr18:8626600-8633400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr18:8626600-8633400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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