Variant report

Variant	rs17013312
Chromosome Location	chr2:33773536-33773537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33767282..33768981-chr2:33771386..33773954,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10186362	0.84[EUR][1000 genomes]
rs11884210	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12467474	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12468045	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12470399	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12476217	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12476533	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12478596	0.80[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12478742	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13404493	0.87[EUR][1000 genomes]
rs17013237	0.91[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.84[LWK][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4491711	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4491712	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55834207	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57542130	0.86[EUR][1000 genomes]
rs7574183	0.91[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516338	chr2:33758456-33780231	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17013312	RASGRP3	cis	Thyroid	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
2	chr2:33738600-33782800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:33738800-33777200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:33740800-33790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:33747800-33780200	Weak transcription	Brain Anterior Caudate	brain
6	chr2:33748000-33774400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:33748000-33790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:33748200-33780200	Weak transcription	Brain Angular Gyrus	brain
9	chr2:33755000-33779800	Weak transcription	Small Intestine	intestine
10	chr2:33755400-33779800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:33757000-33780000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:33757200-33809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:33760800-33782200	Weak transcription	Brain Substantia Nigra	brain
14	chr2:33760800-33783600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:33761000-33789000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:33761200-33774200	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:33761200-33783800	Weak transcription	Psoas Muscle	Psoas
18	chr2:33762000-33780200	Weak transcription	Ovary	ovary
19	chr2:33762200-33775800	Weak transcription	Lung	lung
20	chr2:33762200-33777800	Weak transcription	Adipose Nuclei	Adipose
21	chr2:33762200-33779400	Weak transcription	Spleen	Spleen
22	chr2:33762200-33779600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:33762200-33809800	Weak transcription	Aorta	Aorta
24	chr2:33762600-33774200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:33763200-33780200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:33765600-33775400	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:33765600-33784400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:33765800-33777800	Weak transcription	NHDF-Ad	bronchial
29	chr2:33766800-33809800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:33767600-33779200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:33770400-33775800	Strong transcription	Primary B cells from cord blood	blood
32	chr2:33772000-33775200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:33772200-33775600	Strong transcription	Left Ventricle	heart
34	chr2:33772600-33791000	Strong transcription	GM12878-XiMat	blood
35	chr2:33772600-33793400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:33773000-33774000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:33773000-33774200	Weak transcription	Fetal Heart	heart
38	chr2:33773000-33774400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:33773000-33779800	Weak transcription	Right Ventricle	heart

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