Variant report

Variant	rs12891631
Chromosome Location	chr14:77648627-77648628
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77640676..77643134-chr14:77646615..77650592,3	MCF-7	breast:
2	chr14:77646733..77650700-chr14:77767687..77771144,4	MCF-7	breast:
3	chr14:77647339..77650955-chr14:77785389..77788358,5	MCF-7	breast:
4	chr14:77646354..77648830-chr14:77666464..77668226,2	MCF-7	breast:
5	chr14:77646577..77649681-chr14:77786771..77790034,4	MCF-7	breast:
6	chr14:77648085..77652144-chr14:77770230..77773335,4	MCF-7	breast:
7	chr14:77562647..77564401-chr14:77648231..77649984,2	MCF-7	breast:
8	chr14:77642180..77644687-chr14:77647056..77649855,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201384	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000009830	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10147322	0.87[EUR][1000 genomes]
rs1078692	0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs11159251	0.86[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs12881255	1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs12883963	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12896627	0.90[ASN][1000 genomes]
rs1467011	0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs1504521	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17105457	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1848402	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1861420	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs207802	0.89[ASN][1000 genomes]
rs207804	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs2080384	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2098381	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2655996	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2655997	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2661828	0.95[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28437641	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28713541	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4021320	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs4021325	0.89[ASN][1000 genomes]
rs4899641	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4903552	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61990331	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6574354	0.89[EUR][1000 genomes]
rs6574355	0.89[EUR][1000 genomes]
rs70165	1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs7140198	0.82[ASN][1000 genomes]
rs7148276	0.89[EUR][1000 genomes]
rs7148579	0.88[CHB][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7154702	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8010190	0.89[EUR][1000 genomes]
rs8012358	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8012863	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8014837	0.95[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs8016243	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs8018250	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs888064	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs9788430	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv976845	chr14:77621865-77649191	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12891631	TMEM63C	cis	Whole Blood	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77647600-77648800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:77647600-77648800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:77647600-77648800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr14:77647600-77649000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
5	chr14:77647600-77649000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:77647600-77649000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
7	chr14:77647600-77649000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
8	chr14:77647600-77649200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:77647600-77649200	Enhancers	Spleen	Spleen
10	chr14:77647600-77649400	Active TSS	Brain Anterior Caudate	brain
11	chr14:77647800-77648800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr14:77647800-77648800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:77647800-77648800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr14:77647800-77648800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:77647800-77648800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
16	chr14:77647800-77648800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
17	chr14:77647800-77648800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
18	chr14:77647800-77648800	Active TSS	Brain Substantia Nigra	brain
19	chr14:77647800-77648800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr14:77647800-77648800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
21	chr14:77647800-77648800	Flanking Active TSS	Pancreas	Pancrea
22	chr14:77647800-77648800	Bivalent/Poised TSS	Thymus	Thymus
23	chr14:77647800-77648800	Active TSS	A549	lung
24	chr14:77647800-77648800	Active TSS	NHEK	skin
25	chr14:77647800-77649000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr14:77647800-77649000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr14:77647800-77649000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr14:77647800-77649000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr14:77647800-77649000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:77647800-77649000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:77647800-77649000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:77647800-77649000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:77647800-77649000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
34	chr14:77647800-77649000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr14:77647800-77649000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
36	chr14:77647800-77649200	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr14:77647800-77649200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr14:77647800-77649200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
39	chr14:77647800-77649200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:77647800-77650000	Active TSS	Brain Angular Gyrus	brain
41	chr14:77648000-77648800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:77648000-77648800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:77648000-77648800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:77648000-77648800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr14:77648000-77648800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:77648000-77648800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:77648000-77648800	Bivalent Enhancer	Liver	Liver
48	chr14:77648000-77648800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
49	chr14:77648000-77648800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr14:77648000-77648800	Flanking Bivalent TSS/Enh	Placenta	Placenta

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