Variant report

Variant	rs12478742
Chromosome Location	chr2:33784801-33784802
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	chr2:33762022..33764800-chr2:33783496..33786772,3	K562	blood:
2	chr2:33777937..33780353-chr2:33783539..33786426,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152689	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10186362	0.85[EUR][1000 genomes]
rs10514775	0.86[CHB][hapmap]
rs11884210	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12467474	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12468045	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12470399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476217	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12476533	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12478596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030968	0.86[CHB][hapmap]
rs13404493	0.89[EUR][1000 genomes]
rs17013237	0.91[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17013312	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4491711	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4491712	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4627543	0.86[CHB][hapmap]
rs4670699	0.89[JPT][hapmap]
rs55834207	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57542130	0.88[EUR][1000 genomes]
rs6742257	0.86[CHB][hapmap]
rs6746691	0.86[CHB][hapmap]
rs7561151	0.82[CHB][hapmap]
rs7574183	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897506	1.00[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12478742	RASGRP3	cis	Thyroid	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33740800-33790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr2:33748000-33790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:33757200-33809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:33761000-33789000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:33762200-33809800	Weak transcription	Aorta	Aorta
6	chr2:33766800-33809800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:33772600-33791000	Strong transcription	GM12878-XiMat	blood
8	chr2:33772600-33793400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:33774000-33790200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:33776000-33809800	Weak transcription	Pancreas	Pancrea
11	chr2:33776800-33790600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:33778000-33785200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:33778400-33796800	Weak transcription	Liver	Liver
14	chr2:33778400-33806400	Weak transcription	Primary T cells from cord blood	blood
15	chr2:33778400-33807600	Weak transcription	NH-A	brain
16	chr2:33778400-33808600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:33780000-33808600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:33780400-33785800	Strong transcription	Primary B cells from cord blood	blood
19	chr2:33780400-33787600	Weak transcription	Placenta	Placenta
20	chr2:33780400-33808600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:33780400-33809200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:33780600-33785800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:33780600-33787800	Weak transcription	Brain Anterior Caudate	brain
24	chr2:33780600-33789200	Weak transcription	Ovary	ovary
25	chr2:33780600-33790800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr2:33780600-33791600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:33780800-33797400	Weak transcription	Brain Angular Gyrus	brain
28	chr2:33781200-33792800	Weak transcription	HUVEC	blood vessel
29	chr2:33781200-33809800	Weak transcription	Gastric	stomach
30	chr2:33781600-33789200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:33781600-33790400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:33781800-33792600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:33782000-33807000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr2:33782200-33791800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:33782400-33785200	Weak transcription	HSMMtube	muscle
36	chr2:33782800-33785400	Weak transcription	Fetal Intestine Large	intestine
37	chr2:33782800-33786000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:33783000-33786800	Strong transcription	Adipose Nuclei	Adipose
39	chr2:33783200-33785000	Strong transcription	Brain Hippocampus Middle	brain
40	chr2:33783400-33786400	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr2:33783600-33785800	Strong transcription	Left Ventricle	heart
42	chr2:33783800-33785600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:33783800-33785800	Enhancers	NHDF-Ad	bronchial
44	chr2:33784000-33792800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:33784000-33809800	Weak transcription	Right Ventricle	heart
46	chr2:33784000-33810000	Weak transcription	Fetal Intestine Small	intestine
47	chr2:33784200-33785600	Enhancers	Fetal Stomach	stomach
48	chr2:33784200-33792600	Weak transcription	Spleen	Spleen
49	chr2:33784200-33809800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:33784400-33785000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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