Variant report

Variant	rs1149806
Chromosome Location	chr12:26115117-26115118
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1513130	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap]
rs1707624	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1849469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2729626	0.88[YRI][hapmap]
rs7133685	0.87[YRI][hapmap];0.95[AFR][1000 genomes]
rs829838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs865506	0.81[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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1149806	RASIP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26110200-26115200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:26112800-26116600	Weak transcription	Spleen	Spleen
3	chr12:26112800-26120600	Weak transcription	Pancreas	Pancrea
4	chr12:26113000-26115200	Enhancers	Lung	lung
5	chr12:26113000-26123600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:26113400-26115200	Enhancers	Brain Cingulate Gyrus	brain
7	chr12:26113400-26116400	Weak transcription	Esophagus	oesophagus
8	chr12:26113400-26116400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:26113400-26117000	Enhancers	Brain Substantia Nigra	brain
10	chr12:26113400-26118800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:26113400-26121800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:26113400-26123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:26113400-26123600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:26113400-26128800	Weak transcription	HSMM	muscle
16	chr12:26113600-26115200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:26113600-26115200	Enhancers	Brain Angular Gyrus	brain
18	chr12:26113600-26116000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:26113600-26116400	Weak transcription	Adipose Nuclei	Adipose
20	chr12:26113600-26118200	Weak transcription	HSMMtube	muscle
21	chr12:26113800-26115400	Enhancers	Brain Hippocampus Middle	brain
22	chr12:26113800-26115800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:26113800-26116200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:26113800-26116400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:26113800-26116400	Weak transcription	Ovary	ovary
26	chr12:26113800-26116600	Weak transcription	Fetal Stomach	stomach
27	chr12:26113800-26120600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:26113800-26122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:26113800-26122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:26113800-26124000	Weak transcription	Fetal Intestine Large	intestine
31	chr12:26114000-26115200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:26114000-26115200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:26114000-26116000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:26114000-26116000	Weak transcription	Right Atrium	heart
35	chr12:26114000-26116400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:26114000-26116400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:26114000-26117600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
40	chr12:26114200-26115200	Enhancers	HUVEC	blood vessel
41	chr12:26114200-26115800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:26114200-26116000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:26114200-26117200	Enhancers	Rectal Smooth Muscle	rectum
44	chr12:26114200-26117600	Enhancers	Colon Smooth Muscle	Colon
45	chr12:26114200-26125600	Weak transcription	HMEC	breast
46	chr12:26114400-26115200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:26114400-26115200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr12:26114400-26116200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:26114400-26123000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:26114600-26115200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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