Variant report

Variant	rs7238360
Chromosome Location	chr18:12406839-12406840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12404715..12407367-chr18:12656295..12657862,2	K562	blood:
2	chr18:12375996..12378292-chr18:12406153..12409059,2	MCF-7	breast:
3	chr18:12406749..12409861-chr18:12418820..12421803,8	MCF-7	breast:
4	chr18:12374593..12378692-chr18:12406477..12410976,5	K562	blood:
5	chr18:12404079..12409500-chr18:12655702..12659746,9	K562	blood:
6	chr18:12406252..12409116-chr18:12699672..12701773,2	MCF-7	breast:
7	chr18:12405095..12407603-chr18:12698505..12700605,2	K562	blood:
8	chr18:12396874..12399343-chr18:12404979..12407652,2	MCF-7	breast:
9	chr18:12375261..12378325-chr18:12405563..12409497,4	MCF-7	breast:
10	chr18:12395807..12401661-chr18:12404688..12409428,6	K562	blood:
11	chr18:12406559..12410304-chr18:12656888..12659730,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215527	Chromatin interaction
ENSG00000141391	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000251937	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000134278	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12607911	1.00[CEU][hapmap]
rs12607972	1.00[CEU][hapmap]
rs17525206	1.00[CEU][hapmap]
rs17615418	1.00[CEU][hapmap]
rs1785318	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7230926	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv1060728	chr18:12364077-12410409	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv978720	chr18:12395653-12408191	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
11	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7238360	CLLU1OS	trans	lymphoblastoid	seeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12394600-12407000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:12403600-12407400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:12404200-12407600	Weak transcription	HSMM	muscle
4	chr18:12404400-12407000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:12404400-12407400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr18:12404400-12407400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr18:12404400-12407600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:12404400-12407600	Weak transcription	NHLF	lung
9	chr18:12405200-12407000	Weak transcription	Osteobl	bone
10	chr18:12405200-12407600	Weak transcription	HSMMtube	muscle
11	chr18:12405200-12407600	Weak transcription	NHDF-Ad	bronchial
12	chr18:12405800-12407400	Enhancers	Fetal Intestine Small	intestine
13	chr18:12405800-12407400	Bivalent Enhancer	K562	blood
14	chr18:12406200-12407000	Bivalent Enhancer	Primary T cells from cord blood	blood
15	chr18:12406200-12407000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr18:12406200-12407000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
17	chr18:12406200-12407000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr18:12406200-12407000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
19	chr18:12406200-12407000	Bivalent Enhancer	Hela-S3	cervix
20	chr18:12406200-12407400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr18:12406200-12407400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr18:12406200-12407400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr18:12406200-12407400	Bivalent Enhancer	Fetal Thymus	thymus
24	chr18:12406200-12407600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr18:12406400-12407200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr18:12406400-12407200	Bivalent Enhancer	Fetal Lung	lung
27	chr18:12406400-12407400	Enhancers	Primary B cells from peripheral blood	blood
28	chr18:12406400-12407400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr18:12406400-12407400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr18:12406400-12407600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr18:12406400-12408400	Enhancers	Fetal Brain Male	brain
32	chr18:12406400-12408600	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr18:12406600-12407000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr18:12406600-12407000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr18:12406600-12407000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr18:12406600-12407000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
37	chr18:12406600-12407000	Enhancers	Ovary	ovary
38	chr18:12406600-12407200	Bivalent Enhancer	Primary B cells from cord blood	blood
39	chr18:12406600-12407400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr18:12406600-12407400	Enhancers	Colonic Mucosa	Colon
41	chr18:12406600-12407600	Enhancers	Primary hematopoietic stem cells	blood
42	chr18:12406600-12407600	Bivalent Enhancer	Fetal Intestine Large	intestine
43	chr18:12406600-12407600	Weak transcription	A549	lung
44	chr18:12406600-12407600	Weak transcription	HMEC	breast
45	chr18:12406800-12407000	Enhancers	Fetal Brain Female	brain
46	chr18:12406800-12407000	Bivalent Enhancer	GM12878-XiMat	blood
47	chr18:12406800-12407200	Bivalent Enhancer	Placenta	Placenta
48	chr18:12406800-12407400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
49	chr18:12406800-12407400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr18:12406800-12407400	Enhancers	Brain Anterior Caudate	brain

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