Variant report

Variant	rs7131691
Chromosome Location	chr12:64540960-64540961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRGAP1-1	chr12:64540892-64541613	NONHSAT029130

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10747998	0.84[AMR][1000 genomes]
rs10878108	0.81[CEU][hapmap]
rs10878109	0.81[CEU][hapmap]
rs4763138	0.86[CHD][hapmap]
rs789722	0.83[CHD][hapmap]
rs7964633	0.83[CEU][hapmap]
rs7965130	0.81[CEU][hapmap]

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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7131691	RBMS1	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64522200-64541200	Weak transcription	Colonic Mucosa	Colon
2	chr12:64522400-64541200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:64524400-64541200	Weak transcription	Gastric	stomach
4	chr12:64528000-64541200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:64528000-64541400	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:64531600-64554400	Weak transcription	NH-A	brain
7	chr12:64533800-64541200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:64535400-64541400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:64535400-64542400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:64535600-64541000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:64535600-64541400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:64535600-64541400	Strong transcription	HSMMtube	muscle
13	chr12:64536400-64541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:64536400-64541200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:64536400-64541200	Weak transcription	Brain Angular Gyrus	brain
16	chr12:64537000-64541400	Weak transcription	Liver	Liver
17	chr12:64537000-64542600	Weak transcription	Esophagus	oesophagus
18	chr12:64537000-64545600	Weak transcription	Brain Substantia Nigra	brain
19	chr12:64537200-64546400	Weak transcription	Stomach Mucosa	stomach
20	chr12:64537400-64541000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:64537400-64541000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:64537400-64542800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:64537400-64544600	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:64537600-64541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:64537600-64541200	Weak transcription	Pancreas	Pancrea
26	chr12:64537600-64541200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:64537600-64543600	Weak transcription	Fetal Intestine Small	intestine
28	chr12:64537800-64541000	Weak transcription	Brain Germinal Matrix	brain
29	chr12:64537800-64541000	Weak transcription	Fetal Brain Male	brain
30	chr12:64537800-64541000	Weak transcription	Lung	lung
31	chr12:64537800-64541200	Weak transcription	Fetal Lung	lung
32	chr12:64537800-64543200	Weak transcription	Ovary	ovary
33	chr12:64537800-64547600	Weak transcription	Hela-S3	cervix
34	chr12:64537800-64551000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:64538000-64541400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:64538000-64544800	Weak transcription	Adipose Nuclei	Adipose
37	chr12:64538000-64545000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:64538000-64553400	Weak transcription	HMEC	breast
39	chr12:64539000-64541400	Strong transcription	NHLF	lung
40	chr12:64539400-64544600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:64539600-64544800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:64539600-64544800	Weak transcription	Fetal Stomach	stomach
43	chr12:64539800-64541400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:64539800-64541400	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:64539800-64541400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:64539800-64541600	Weak transcription	A549	lung
47	chr12:64539800-64542800	Weak transcription	HSMM	muscle
48	chr12:64540000-64541600	Weak transcription	Fetal Intestine Large	intestine
49	chr12:64540000-64541800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:64540000-64542000	Weak transcription	Aorta	Aorta

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