Variant report

Variant	rs666536
Chromosome Location	chr18:9630578-9630579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9629058..9631077-chr18:9650339..9653253,2	K562	blood:
2	chr18:9613656..9616076-chr18:9629019..9630972,2	K562	blood:
3	chr18:9627920..9630651-chr18:9632769..9635738,3	K562	blood:
4	chr18:9613322..9616400-chr18:9628599..9633857,7	MCF-7	breast:
5	chr18:9616624..9619206-chr18:9627826..9630962,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263627	Chromatin interaction
ENSG00000212572	Chromatin interaction
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11872991	0.89[CHD][hapmap];0.86[JPT][hapmap]
rs3859294	0.85[ASN][1000 genomes]
rs600622	0.87[CHB][hapmap]
rs627112	0.81[CEU][hapmap]
rs681503	0.87[CHB][hapmap]
rs682431	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7239604	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9617600-9630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:9627800-9630600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:9627800-9630600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr18:9627800-9632200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:9628000-9630600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr18:9628000-9630600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr18:9628000-9630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr18:9628000-9630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:9628000-9631400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr18:9628000-9631400	Weak transcription	Osteobl	bone
11	chr18:9628000-9631600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr18:9628000-9631600	Weak transcription	A549	lung
13	chr18:9628000-9631800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:9628000-9631800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:9628000-9631800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:9628000-9631800	Weak transcription	NH-A	brain
17	chr18:9628000-9632200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr18:9628000-9642800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr18:9628200-9630600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr18:9628200-9630600	Weak transcription	Hela-S3	cervix
21	chr18:9628200-9631000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:9628200-9631200	Weak transcription	NHLF	lung
23	chr18:9628200-9631600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:9628200-9631600	Weak transcription	HSMMtube	muscle
25	chr18:9628200-9631800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:9628200-9631800	Weak transcription	NHEK	skin
27	chr18:9628200-9632000	Weak transcription	HMEC	breast
28	chr18:9629200-9630600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr18:9629800-9630600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr18:9630000-9631000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:9630000-9631800	Weak transcription	HUVEC	blood vessel
32	chr18:9630000-9632000	Enhancers	NHDF-Ad	bronchial
33	chr18:9630000-9633000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:9630400-9630800	Enhancers	Fetal Intestine Small	intestine
35	chr18:9630400-9631000	Enhancers	K562	blood

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