Variant report

Variant	rs12526387
Chromosome Location	chr6:161859628-161859629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
2	chr6:161859122..161861758-chr6:161866811..161869668,2	MCF-7	breast:
3	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11752647	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11962547	1.00[CHB][hapmap]
rs13209308	1.00[CHB][hapmap];0.84[GIH][hapmap]
rs1407214	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv481931	chr6:161647026-161961906	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1031234	chr6:161676768-162250726	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv886819	chr6:161712035-162520133	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv886820	chr6:161712880-162184932	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv830854	chr6:161739926-161927515	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv518931	chr6:161793319-162406335	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv481861	chr6:161802883-162160197	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1033192	chr6:161812419-161860010	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv886821	chr6:161812626-161859628	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1024921	chr6:161814295-161860636	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv2761040	chr6:161814307-161860636	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv520078	chr6:161814907-161860010	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv605066	chr6:161814907-161860010	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv481930	chr6:161815297-161860058	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv605067	chr6:161816660-161860010	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1022345	chr6:161816661-161860010	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1018065	chr6:161816661-161860169	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1018466	chr6:161816661-161860636	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv605068	chr6:161817168-161860010	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv1023319	chr6:161817703-161860636	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv481981	chr6:161829077-162215745	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv1015211	chr6:161836242-161860636	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv1033603	chr6:161844266-162001436	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv481750	chr6:161850976-161996586	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12526387	TM4SF19	trans	lymphoblastoid	seeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161855600-161864400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:161855800-161860200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:161856000-161859800	Enhancers	NHDF-Ad	bronchial
4	chr6:161856000-161860000	Enhancers	NH-A	brain
5	chr6:161856000-161861600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:161856200-161859800	Enhancers	Brain Germinal Matrix	brain
7	chr6:161856200-161860200	Weak transcription	Left Ventricle	heart
8	chr6:161856400-161860000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:161856400-161860000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:161856400-161860200	Weak transcription	Ovary	ovary
11	chr6:161856600-161859800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:161856600-161859800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:161856600-161859800	Weak transcription	Brain Angular Gyrus	brain
14	chr6:161856600-161859800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:161856600-161860000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:161856600-161866200	Weak transcription	Psoas Muscle	Psoas
17	chr6:161856800-161859800	Weak transcription	Fetal Brain Male	brain
18	chr6:161856800-161860000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:161856800-161860000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:161856800-161860000	Weak transcription	Osteobl	bone
21	chr6:161856800-161860200	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:161856800-161861400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:161857000-161860000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:161857400-161860000	Enhancers	HMEC	breast
25	chr6:161857800-161859800	Enhancers	HSMMtube	muscle
26	chr6:161857800-161863400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:161858000-161860000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:161858200-161859800	Weak transcription	Fetal Kidney	kidney
29	chr6:161858400-161859800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:161858400-161860000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:161858400-161862800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:161858600-161859800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:161859000-161860000	Enhancers	HSMM	muscle
34	chr6:161859000-161860200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:161859200-161859800	Enhancers	Adipose Nuclei	Adipose
36	chr6:161859400-161860200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:161859400-161860600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:161859600-161859800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:161859600-161859800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr6:161859600-161859800	Enhancers	Brain Anterior Caudate	brain
41	chr6:161859600-161859800	Enhancers	Brain Hippocampus Middle	brain
42	chr6:161859600-161859800	Enhancers	Brain Substantia Nigra	brain
43	chr6:161859600-161859800	Enhancers	A549	lung
44	chr6:161859600-161860000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:161859600-161860000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:161859600-161860000	Enhancers	Brain Cingulate Gyrus	brain
47	chr6:161859600-161860000	Enhancers	Fetal Brain Female	brain
48	chr6:161859600-161860000	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:161859600-161860000	Weak transcription	Pancreas	Pancrea

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