Variant report

Variant	rs1785318
Chromosome Location	chr18:12409955-12409956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12374593..12378692-chr18:12406477..12410976,5	K562	blood:
2	chr18:12407594..12413164-chr18:12414407..12422412,12	MCF-7	breast:
3	chr18:12406559..12410304-chr18:12656888..12659730,4	MCF-7	breast:
4	chr18:12407968..12410146-chr3:156930881..156932746,2	MCF-7	breast:

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12607911	1.00[CEU][hapmap]
rs12607972	1.00[CEU][hapmap]
rs17525206	1.00[CEU][hapmap]
rs17615418	1.00[CEU][hapmap]
rs1785322	0.82[YRI][hapmap]
rs486922	0.91[YRI][hapmap]
rs500718	0.91[YRI][hapmap]
rs7230926	1.00[CEU][hapmap]
rs7238360	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

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	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
10	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
11	nsv909404	chr18:12409955-12438402	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12407200-12410000	Active TSS	Fetal Brain Female	brain
2	chr18:12408600-12410600	Enhancers	Fetal Heart	heart
3	chr18:12408600-12419600	Weak transcription	Thymus	Thymus
4	chr18:12408800-12410000	Weak transcription	Psoas Muscle	Psoas
5	chr18:12408800-12410200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr18:12408800-12410200	Weak transcription	Small Intestine	intestine
7	chr18:12408800-12410200	Weak transcription	Stomach Mucosa	stomach
8	chr18:12408800-12410400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:12408800-12410400	Enhancers	Lung	lung
10	chr18:12408800-12410600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:12408800-12410800	Weak transcription	Placenta	Placenta
12	chr18:12408800-12415000	Weak transcription	Ovary	ovary
13	chr18:12408800-12415600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:12408800-12415600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr18:12408800-12415800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:12408800-12415800	Weak transcription	Left Ventricle	heart
17	chr18:12408800-12417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:12408800-12419800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr18:12408800-12419800	Weak transcription	Pancreas	Pancrea
20	chr18:12409000-12410000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr18:12409000-12410000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr18:12409000-12410000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:12409000-12410000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr18:12409000-12410000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:12409000-12410000	Weak transcription	Brain Angular Gyrus	brain
26	chr18:12409000-12410000	Weak transcription	Brain Germinal Matrix	brain
27	chr18:12409000-12410000	Weak transcription	Brain Hippocampus Middle	brain
28	chr18:12409000-12410000	Weak transcription	Colon Smooth Muscle	Colon
29	chr18:12409000-12410000	Enhancers	Fetal Brain Male	brain
30	chr18:12409000-12410000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr18:12409000-12410000	Enhancers	HSMM	muscle
32	chr18:12409000-12410200	Active TSS	GM12878-XiMat	blood
33	chr18:12409000-12410200	Enhancers	Hela-S3	cervix
34	chr18:12409000-12410600	Enhancers	Brain Cingulate Gyrus	brain
35	chr18:12409000-12410600	Enhancers	Brain Substantia Nigra	brain
36	chr18:12409000-12410600	Enhancers	Osteobl	bone
37	chr18:12409000-12410800	Enhancers	Fetal Muscle Leg	muscle
38	chr18:12409000-12411000	Enhancers	Fetal Muscle Trunk	muscle
39	chr18:12409000-12411200	Enhancers	K562	blood
40	chr18:12409000-12411600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr18:12409000-12414000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:12409000-12414000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr18:12409000-12415800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr18:12409000-12415800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr18:12409000-12415800	Weak transcription	Fetal Intestine Small	intestine
46	chr18:12409000-12415800	Weak transcription	Fetal Lung	lung
47	chr18:12409000-12416000	Weak transcription	Aorta	Aorta
48	chr18:12409000-12416000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr18:12409000-12417600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr18:12409000-12419600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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