Variant report

Variant	rs9562905
Chromosome Location	chr13:50210212-50210213
allele	G/T
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: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3803186	1.00[ASW][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41284800	0.81[AFR][1000 genomes]
rs9562890	0.86[EUR][1000 genomes]
rs9568267	1.00[JPT][hapmap]
rs9568293	0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9568294	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50202800-50233600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:50203200-50210600	Weak transcription	Small Intestine	intestine
3	chr13:50203200-50212200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:50205200-50215400	Weak transcription	Esophagus	oesophagus
5	chr13:50205800-50210800	Enhancers	Fetal Heart	heart
6	chr13:50206000-50211200	Genic enhancers	Primary B cells from cord blood	blood
7	chr13:50208800-50215000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
8	chr13:50209000-50210400	Enhancers	Fetal Thymus	thymus
9	chr13:50209000-50211200	Enhancers	Lung	lung
10	chr13:50209200-50210400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr13:50209200-50210600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:50209200-50210800	Enhancers	HepG2	liver
13	chr13:50209400-50210400	Active TSS	Stomach Mucosa	stomach
14	chr13:50209400-50210400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
15	chr13:50209400-50210400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr13:50209400-50210600	Enhancers	GM12878-XiMat	blood
17	chr13:50209400-50210800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:50209400-50211000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:50209600-50210400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr13:50209600-50210400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr13:50209600-50210400	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr13:50209600-50210400	Active TSS	Fetal Intestine Small	intestine
23	chr13:50209600-50210400	Active TSS	Ovary	ovary
24	chr13:50209600-50210600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr13:50209600-50210800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr13:50209800-50210400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:50209800-50210400	Active TSS	Primary T cells from cord blood	blood
28	chr13:50209800-50210400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr13:50209800-50210400	Active TSS	Brain Hippocampus Middle	brain
30	chr13:50209800-50210400	Active TSS	Left Ventricle	heart
31	chr13:50209800-50210600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr13:50209800-50210600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:50209800-50210600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr13:50209800-50210600	Active TSS	Brain Anterior Caudate	brain
35	chr13:50209800-50210600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr13:50209800-50210600	Active TSS	Fetal Kidney	kidney
37	chr13:50209800-50210600	Active TSS	Gastric	stomach
38	chr13:50209800-50210600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr13:50209800-50210600	Enhancers	Dnd41	blood
40	chr13:50209800-50210800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr13:50209800-50210800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr13:50209800-50210800	Active TSS	Rectal Smooth Muscle	rectum
43	chr13:50210000-50210400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:50210000-50210400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr13:50210000-50210400	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr13:50210000-50210400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr13:50210000-50210400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr13:50210000-50210400	Active TSS	Fetal Intestine Large	intestine
49	chr13:50210000-50210400	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr13:50210000-50210400	Flanking Active TSS	Right Atrium	heart

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