Variant report

Variant	rs6722536
Chromosome Location	chr2:33792812-33792813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:33792471-33792874	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:33791810-33794475	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:33792375-33792994	GM12892	blood:	n/a	n/a
4	POLR2A	chr2:33792428-33793091	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:33792327-33792979	GM12892	blood:	n/a	n/a
6	POLR2A	chr2:33791454-33793212	GM12891	blood:	n/a	n/a
7	BCL3	chr2:33792470-33792851	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:33791704-33793211	GM12892	blood:	n/a	n/a
9	POLR2A	chr2:33792327-33792971	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:33792471-33792863	GM12891	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-9	chr2:33791907-33794471	NONHSAT070019

Variant related genes	Relation type
ENSG00000237133	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10188817	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10198451	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10201046	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1046038	0.84[ASN][1000 genomes]
rs13388224	0.81[ASN][1000 genomes]
rs13391166	0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs13418410	0.82[ASN][1000 genomes]
rs17657783	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2044644	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs4670206	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4670209	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4670728	0.83[ASN][1000 genomes]
rs4670735	0.82[ASN][1000 genomes]
rs7571269	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs935625	0.81[CHB][hapmap];0.90[JPT][hapmap]

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	nsv961392	chr2:33791635-33796825	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6722536	FAM98A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33757200-33809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:33762200-33809800	Weak transcription	Aorta	Aorta
3	chr2:33766800-33809800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:33772600-33793400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:33776000-33809800	Weak transcription	Pancreas	Pancrea
6	chr2:33778400-33796800	Weak transcription	Liver	Liver
7	chr2:33778400-33806400	Weak transcription	Primary T cells from cord blood	blood
8	chr2:33778400-33807600	Weak transcription	NH-A	brain
9	chr2:33778400-33808600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:33780000-33808600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:33780400-33808600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:33780400-33809200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:33780800-33797400	Weak transcription	Brain Angular Gyrus	brain
14	chr2:33781200-33809800	Weak transcription	Gastric	stomach
15	chr2:33782000-33807000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:33784000-33809800	Weak transcription	Right Ventricle	heart
17	chr2:33784000-33810000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:33784200-33809800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:33784400-33796000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:33784600-33808400	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:33785800-33794200	Weak transcription	NHDF-Ad	bronchial
22	chr2:33786000-33808600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:33786200-33794800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:33786400-33798400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:33786400-33808800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:33788200-33802000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:33788200-33805400	Weak transcription	Placenta	Placenta
28	chr2:33788400-33808800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:33788600-33799000	Weak transcription	Brain Substantia Nigra	brain
30	chr2:33788600-33802000	Weak transcription	Brain Anterior Caudate	brain
31	chr2:33788600-33807400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:33788600-33808600	Weak transcription	Psoas Muscle	Psoas
33	chr2:33788800-33795600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:33789400-33809400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:33789600-33797400	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:33789600-33808600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:33790800-33797200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:33790800-33808600	Weak transcription	Adipose Nuclei	Adipose
39	chr2:33791000-33806800	Weak transcription	Primary B cells from cord blood	blood
40	chr2:33791400-33808600	Weak transcription	Left Ventricle	heart
41	chr2:33791600-33793800	Strong transcription	GM12878-XiMat	blood
42	chr2:33792800-33793000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:33792800-33793000	Enhancers	Stomach Smooth Muscle	stomach

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