Variant report

Variant	rs2278182
Chromosome Location	chr12:119624335-119624336
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	chr12:119616453..119622468-chr12:119623323..119627109,7	MCF-7	breast:
2	chr12:119618981..119622944-chr12:119623767..119626992,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152137	Chromatin interaction
ENSG00000256609	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10849633	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11064693	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11064700	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];0.96[TSI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064706	0.82[ASN][1000 genomes]
rs1133026	0.93[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.88[MEX][hapmap];0.95[MKK][hapmap];0.96[TSI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424136	0.82[ASN][1000 genomes]
rs6490243	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7311047	0.92[ASN][1000 genomes]
rs73213453	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2278182	SRRM4,KIAA1853	cis	hippocampus	BrainEAC
rs2278182	LOC387890,TMEM233	cis	hippocampus	BrainEAC

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119617400-119629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:119618400-119626400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:119618800-119625800	Weak transcription	Gastric	stomach
4	chr12:119618800-119631000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:119619000-119626400	Weak transcription	Osteobl	bone
7	chr12:119619200-119631600	Weak transcription	Pancreas	Pancrea
8	chr12:119619200-119639000	Weak transcription	Colonic Mucosa	Colon
9	chr12:119619600-119625600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:119619800-119624600	Weak transcription	NHLF	lung
11	chr12:119620000-119624400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:119620000-119626400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:119620000-119634000	Weak transcription	HUVEC	blood vessel
14	chr12:119620000-119636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:119620000-119639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:119620000-119639600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:119620200-119624600	Weak transcription	Brain Substantia Nigra	brain
18	chr12:119621000-119624400	Enhancers	Adipose Nuclei	Adipose
19	chr12:119621000-119625800	Weak transcription	Hela-S3	cervix
20	chr12:119621000-119626400	Weak transcription	HSMM	muscle
21	chr12:119621200-119626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:119621200-119632200	Weak transcription	Fetal Thymus	thymus
23	chr12:119621400-119624400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:119621800-119629200	Genic enhancers	Placenta	Placenta
25	chr12:119622400-119624400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:119622400-119624600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:119622400-119624600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:119622400-119626400	Weak transcription	NH-A	brain
29	chr12:119622400-119626800	Weak transcription	NHDF-Ad	bronchial
30	chr12:119622400-119628800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:119622400-119629000	Weak transcription	Esophagus	oesophagus
32	chr12:119622600-119629000	Weak transcription	Psoas Muscle	Psoas
33	chr12:119622800-119624400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:119622800-119626400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:119623600-119624400	Enhancers	Fetal Lung	lung
36	chr12:119623600-119624400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
37	chr12:119623600-119624800	Genic enhancers	Fetal Heart	heart
38	chr12:119623800-119624400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr12:119623800-119624800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
40	chr12:119623800-119629200	Genic enhancers	Fetal Muscle Leg	muscle
41	chr12:119624000-119624400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:119624000-119624400	Enhancers	Ovary	ovary
43	chr12:119624000-119624400	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr12:119624000-119624600	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:119624000-119624800	Enhancers	Brain Angular Gyrus	brain
46	chr12:119624000-119624800	Enhancers	Brain Hippocampus Middle	brain
47	chr12:119624000-119624800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:119624000-119624800	Enhancers	Right Atrium	heart
49	chr12:119624000-119624800	Strong transcription	HSMMtube	muscle
50	chr12:119624000-119625800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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