Variant report

Variant	rs7313514
Chromosome Location	chr12:118795793-118795794
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118795210..118796886-chr12:118801131..118803860,2	K562	blood:
2	chr12:118749913..118751885-chr12:118794829..118796895,2	K562	blood:
3	chr12:118789693..118801109-chr12:118805205..118813455,21	K562	blood:
4	chr12:118792933..118800473-chr12:118805927..118813309,24	K562	blood:
5	chr12:118497374..118499405-chr12:118794577..118796696,2	K562	blood:
6	chr12:118791019..118798938-chr12:118809011..118813946,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction
ENSG00000176871	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10160871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10507287	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11068877	1.00[TSI][hapmap]
rs11068890	1.00[TSI][hapmap]
rs11068895	1.00[TSI][hapmap]
rs12311160	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12315982	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12319261	1.00[TSI][hapmap]
rs2062521	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56097381	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56818943	0.83[ASN][1000 genomes]
rs57261188	0.80[ASN][1000 genomes]
rs61388284	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7134670	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137548	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137739	0.81[MKK][hapmap];1.00[TSI][hapmap]
rs7296214	1.00[CHD][hapmap];0.85[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs7967474	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7974361	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118791600-118797400	Weak transcription	Gastric	stomach
2	chr12:118792400-118796800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:118792600-118796000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:118793000-118796200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:118793000-118799200	Enhancers	Osteobl	bone
6	chr12:118793200-118796400	Enhancers	Brain Angular Gyrus	brain
7	chr12:118793200-118796400	Enhancers	Fetal Intestine Small	intestine
8	chr12:118793200-118796600	Enhancers	Fetal Intestine Large	intestine
9	chr12:118793200-118797000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:118793200-118797800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:118793400-118795800	Enhancers	Stomach Mucosa	stomach
12	chr12:118793400-118796200	Enhancers	Brain Substantia Nigra	brain
13	chr12:118793400-118797200	Enhancers	HMEC	breast
14	chr12:118793400-118799200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:118793600-118796800	Enhancers	NHEK	skin
16	chr12:118793600-118797800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr12:118793800-118796000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr12:118793800-118796400	Enhancers	Colon Smooth Muscle	Colon
19	chr12:118793800-118796600	Enhancers	Adipose Nuclei	Adipose
20	chr12:118793800-118799200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:118794200-118796000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr12:118794400-118796200	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:118794400-118797800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:118794600-118796400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr12:118794600-118796400	Flanking Active TSS	Dnd41	blood
26	chr12:118794600-118796600	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr12:118794600-118796600	Enhancers	Rectal Smooth Muscle	rectum
28	chr12:118794600-118796600	Enhancers	HSMM	muscle
29	chr12:118794600-118797200	Enhancers	HepG2	liver
30	chr12:118794600-118797800	Active TSS	GM12878-XiMat	blood
31	chr12:118794800-118796200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:118794800-118796600	Enhancers	Liver	Liver
33	chr12:118794800-118807800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:118794800-118808400	Weak transcription	Small Intestine	intestine
35	chr12:118794800-118809000	Weak transcription	Lung	lung
36	chr12:118794800-118809000	Weak transcription	Pancreas	Pancrea
37	chr12:118794800-118809200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:118794800-118809200	Weak transcription	Esophagus	oesophagus
39	chr12:118795000-118795800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr12:118795000-118795800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr12:118795000-118795800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr12:118795000-118796000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr12:118795000-118796200	Weak transcription	Fetal Stomach	stomach
44	chr12:118795000-118797000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr12:118795000-118797600	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr12:118795200-118795800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:118795200-118796000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr12:118795200-118796600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:118795200-118796600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:118795200-118797200	Active TSS	K562	blood

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