Variant report

Variant	rs10874867
Chromosome Location	chr1:95083836-95083837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95083696..95086099-chr1:95111956..95113779,2	MCF-7	breast:
2	chr1:95005520..95008552-chr1:95083214..95086682,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117525	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10782983	0.81[TSI][hapmap]
rs10874868	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874869	0.95[CEU][hapmap]
rs3814018	0.95[CEU][hapmap]
rs4847318	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686026	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv947122	chr1:95081067-95089572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv519997	chr1:95083836-95113417	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10874867	CCDC18	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95065600-95087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:95075200-95088400	Weak transcription	Fetal Lung	lung
3	chr1:95075600-95086000	Weak transcription	Fetal Stomach	stomach
4	chr1:95078600-95085200	Weak transcription	Pancreas	Pancrea
5	chr1:95078600-95086000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:95080800-95085200	Weak transcription	Gastric	stomach
7	chr1:95080800-95085200	Weak transcription	Lung	lung
8	chr1:95080800-95086800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:95081000-95085400	Weak transcription	Stomach Mucosa	stomach
10	chr1:95082000-95084000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:95082000-95084000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:95082000-95084200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:95082000-95084200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:95082200-95084200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:95082400-95084000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:95082400-95084400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:95082400-95086200	Weak transcription	Fetal Heart	heart
18	chr1:95082600-95088200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:95082800-95088200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:95083000-95084000	Enhancers	Colonic Mucosa	Colon
21	chr1:95083000-95084000	Enhancers	HepG2	liver
22	chr1:95083000-95087600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:95083000-95087800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:95083200-95086400	Weak transcription	A549	lung
25	chr1:95083400-95085200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:95083400-95085800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:95083400-95086200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:95083400-95086200	Weak transcription	Small Intestine	intestine
29	chr1:95083400-95087000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:95083400-95088600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:95083600-95084400	ZNF genes & repeats	HMEC	breast
32	chr1:95083600-95084800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:95083600-95085400	Weak transcription	HSMM	muscle
34	chr1:95083800-95084000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:95083800-95084000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr1:95083800-95084000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:95083800-95084200	ZNF genes & repeats	NHEK	skin
38	chr1:95083800-95085200	Weak transcription	Hela-S3	cervix
39	chr1:95083800-95085200	Weak transcription	NH-A	brain
40	chr1:95083800-95086400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:95083800-95086800	Weak transcription	NHLF	lung
42	chr1:95083800-95087200	Weak transcription	Osteobl	bone
43	chr1:95083800-95088600	Weak transcription	Muscle Satellite Cultured Cells	--

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