Variant report

Variant	rs34095989
Chromosome Location	chr12:57627717-57627718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57625841..57628130-chr12:57851805..57854009,2	K562	blood:
2	chr12:57520295..57521910-chr12:57627423..57630374,2	K562	blood:

Variant related genes	Relation type
ENSG00000111087	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11172139	1.00[CHB][hapmap];0.82[GIH][hapmap];0.86[MEX][hapmap]
rs11172184	1.00[CHB][hapmap];0.82[GIH][hapmap];0.86[MEX][hapmap]
rs34453452	0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1796377	chr12:57577246-57638936	Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv1809338	chr12:57580227-57628338	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv519293	chr12:57583672-57637593	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34095989	OR6C4	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57623800-57628200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:57624400-57628200	Genic enhancers	Spleen	Spleen
3	chr12:57624400-57630400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:57624600-57627800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:57624800-57628400	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr12:57624800-57628400	Strong transcription	Primary T cells from cord blood	blood
7	chr12:57624800-57628600	Genic enhancers	Fetal Muscle Trunk	muscle
8	chr12:57625000-57628200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:57625000-57628200	Strong transcription	Brain Hippocampus Middle	brain
10	chr12:57625000-57628200	Strong transcription	Colon Smooth Muscle	Colon
11	chr12:57625000-57628400	Strong transcription	Fetal Lung	lung
12	chr12:57625000-57628800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:57625000-57628800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:57625000-57628800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr12:57625000-57629800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:57625200-57628000	Genic enhancers	Primary B cells from cord blood	blood
17	chr12:57625200-57628000	Strong transcription	Brain Anterior Caudate	brain
18	chr12:57625200-57628000	Strong transcription	Brain Germinal Matrix	brain
19	chr12:57625200-57628200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:57625200-57628400	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr12:57625200-57628600	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr12:57625200-57628600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:57625200-57628600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:57625200-57628600	Strong transcription	Colonic Mucosa	Colon
25	chr12:57625200-57628600	Strong transcription	Fetal Intestine Large	intestine
26	chr12:57625200-57628600	Strong transcription	Fetal Intestine Small	intestine
27	chr12:57625200-57628600	Strong transcription	Fetal Stomach	stomach
28	chr12:57625200-57628800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:57625200-57628800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:57625200-57629000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:57625200-57629200	Weak transcription	Fetal Brain Male	brain
32	chr12:57625200-57629200	Weak transcription	Fetal Heart	heart
33	chr12:57625200-57629600	Weak transcription	Right Atrium	heart
34	chr12:57625200-57631400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:57625400-57627800	Strong transcription	Rectal Smooth Muscle	rectum
36	chr12:57625400-57628000	Strong transcription	Brain Substantia Nigra	brain
37	chr12:57625400-57628200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:57625400-57628200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr12:57625400-57628200	Strong transcription	Left Ventricle	heart
40	chr12:57625400-57628200	Strong transcription	HSMM	muscle
41	chr12:57625400-57628400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:57625400-57628600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:57625400-57628600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:57625400-57628600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:57625400-57628600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr12:57625400-57628800	Strong transcription	Fetal Brain Female	brain
47	chr12:57625400-57629000	Strong transcription	Fetal Thymus	thymus
48	chr12:57625400-57629000	Strong transcription	Ovary	ovary
49	chr12:57625400-57629600	Strong transcription	HMEC	breast
50	chr12:57625400-57630000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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