Variant report

Variant	rs623714
Chromosome Location	chr18:9639037-9639038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9612700..9615548-chr18:9635464..9640356,8	MCF-7	breast:
2	chr18:9638763..9640790-chr18:9660226..9661801,2	MCF-7	breast:
3	chr18:9638107..9640165-chr18:9648278..9650768,2	K562	blood:
4	chr18:9630794..9635395-chr18:9635739..9640579,6	MCF-7	breast:
5	chr18:9637061..9640955-chr18:9641542..9645147,4	MCF-7	breast:
6	chr18:9612039..9617302-chr18:9635697..9643000,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7234968	1.00[CEU][hapmap]
rs7238295	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7245068	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap]
rs8089248	1.00[CEU][hapmap]
rs8092965	1.00[CEU][hapmap]

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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9628000-9642800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr18:9631200-9642000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr18:9632400-9647600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:9636400-9639200	Weak transcription	Spleen	Spleen
5	chr18:9637800-9640600	Weak transcription	Placenta	Placenta
6	chr18:9638000-9641800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr18:9638200-9639200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:9638200-9639400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:9638200-9639600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:9638200-9639600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr18:9638200-9639600	Enhancers	NHEK	skin
12	chr18:9638400-9639200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:9638400-9639200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:9638400-9639400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:9638400-9639400	Enhancers	A549	lung
16	chr18:9638400-9639400	Enhancers	HMEC	breast
17	chr18:9638600-9639200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr18:9638600-9639600	Enhancers	HUVEC	blood vessel
19	chr18:9638800-9639200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr18:9638800-9639200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr18:9638800-9639200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr18:9638800-9639200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr18:9638800-9639400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr18:9638800-9639400	Enhancers	NHLF	lung
25	chr18:9638800-9639600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr18:9638800-9639600	Enhancers	NHDF-Ad	bronchial
27	chr18:9639000-9639200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr18:9639000-9639400	Enhancers	Osteobl	bone
29	chr18:9639000-9640200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:9639000-9648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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