Variant report

Variant	rs7320206
Chromosome Location	chr13:50208946-50208947
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	chr13:50207967..50212000-chr13:50212488..50215726,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4941653	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7140087	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986690	0.92[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7320206	ARL11	Cis_1M	lymphoblastoid	RTeQTL
rs7320206	RCBTB1	cis	parietal	SCAN
rs7320206	CYSLTR2	cis	cerebellum	SCAN
rs7320206	RCBTB1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50200400-50209800	Weak transcription	Gastric	stomach
2	chr13:50202400-50210000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:50202800-50233600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:50203000-50209000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr13:50203000-50209000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:50203000-50209400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr13:50203200-50209000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:50203200-50210600	Weak transcription	Small Intestine	intestine
9	chr13:50203200-50212200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:50203400-50209200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr13:50203600-50209800	Weak transcription	Primary T cells from cord blood	blood
12	chr13:50204000-50209200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr13:50204000-50209200	Weak transcription	Right Atrium	heart
14	chr13:50204000-50209800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr13:50204200-50209200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr13:50204200-50209200	Weak transcription	Right Ventricle	heart
17	chr13:50204600-50209000	Weak transcription	GM12878-XiMat	blood
18	chr13:50204600-50210000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr13:50205200-50209200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:50205200-50209200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:50205200-50209400	Weak transcription	Thymus	Thymus
22	chr13:50205200-50215400	Weak transcription	Esophagus	oesophagus
23	chr13:50205400-50209000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:50205400-50209000	Weak transcription	Fetal Thymus	thymus
25	chr13:50205400-50210000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr13:50205800-50210800	Enhancers	Fetal Heart	heart
27	chr13:50206000-50209200	Weak transcription	Fetal Intestine Small	intestine
28	chr13:50206000-50209400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr13:50206000-50211200	Genic enhancers	Primary B cells from cord blood	blood
30	chr13:50206200-50209000	Weak transcription	Lung	lung
31	chr13:50206200-50209200	Weak transcription	Spleen	Spleen
32	chr13:50206800-50209200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr13:50206800-50209800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr13:50207200-50209000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr13:50207400-50210200	Weak transcription	K562	blood
36	chr13:50208000-50209000	Weak transcription	Left Ventricle	heart
37	chr13:50208600-50209400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:50208800-50209000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr13:50208800-50209000	Genic enhancers	Primary hematopoietic stem cells	blood
40	chr13:50208800-50209400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr13:50208800-50209400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr13:50208800-50210000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr13:50208800-50215000	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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