Variant report

Variant	rs2476391
Chromosome Location	chr13:50618504-50618505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50614102..50617084-chr13:50617972..50620154,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRYD7-1	chr13:50617572-50618904	ENSG00000231607
2	lnc-SPRYD7-1	chr13:50618051-50618904	ENSG00000231607
3	lnc-SPRYD7-1	chr13:50618050-50618904	ENSG00000231607
4	lnc-SPRYD7-1	chr13:50618046-50618904	NONHSAT033793
5	lnc-SPRYD7-1	chr13:50618046-50618904	NONHSAT033792

No data

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2066550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2472395	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476389	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2490636	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2490637	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2490638	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2490639	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34047395	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs706609	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs706615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs706617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73489867	0.84[EUR][1000 genomes]
rs790528	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs790529	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs790530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs790531	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs790532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs790928	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs790931	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790934	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs790935	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs790937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs790939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs790940	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs790941	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv1054415	chr13:50598121-50650938	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1202 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50578600-50629800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
3	chr13:50586800-50654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:50587000-50633800	Weak transcription	Hela-S3	cervix
5	chr13:50587000-50645600	Weak transcription	Spleen	Spleen
6	chr13:50588000-50645600	Weak transcription	Ovary	ovary
7	chr13:50589800-50645600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr13:50590000-50624200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr13:50590200-50653600	Weak transcription	Small Intestine	intestine
10	chr13:50593000-50618600	Weak transcription	HMEC	breast
11	chr13:50594600-50622600	Weak transcription	A549	lung
12	chr13:50594600-50635000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr13:50594800-50641000	Weak transcription	Lung	lung
14	chr13:50594800-50643200	Weak transcription	Brain Hippocampus Middle	brain
15	chr13:50594800-50643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr13:50595000-50654200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr13:50595200-50640000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr13:50595800-50654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:50596400-50620400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:50597000-50624600	Weak transcription	Fetal Lung	lung
21	chr13:50598200-50629800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr13:50598200-50634800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr13:50598200-50641000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr13:50598600-50626000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr13:50598600-50627800	Weak transcription	Brain Germinal Matrix	brain
26	chr13:50598600-50640000	Weak transcription	Placenta	Placenta
27	chr13:50598600-50650200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr13:50601600-50626200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr13:50601600-50641000	Weak transcription	Left Ventricle	heart
30	chr13:50602000-50618600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr13:50604800-50634000	Weak transcription	NHEK	skin
32	chr13:50605000-50624000	Weak transcription	K562	blood
33	chr13:50608600-50621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:50608600-50639800	Weak transcription	NHLF	lung
35	chr13:50610600-50621400	Weak transcription	GM12878-XiMat	blood
36	chr13:50611800-50646400	Strong transcription	Fetal Thymus	thymus
37	chr13:50612200-50639800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr13:50612400-50618600	Strong transcription	Osteobl	bone
39	chr13:50612400-50619800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:50612400-50639800	Strong transcription	Dnd41	blood
41	chr13:50612400-50643000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr13:50612600-50639800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr13:50612600-50644200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:50612800-50620400	Weak transcription	Fetal Stomach	stomach
45	chr13:50612800-50622400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:50612800-50645400	Weak transcription	HSMMtube	muscle
47	chr13:50613400-50622600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:50613800-50619400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:50613800-50620400	Weak transcription	Fetal Intestine Small	intestine
50	chr13:50614000-50619600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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