Variant report

Variant	rs13410353
Chromosome Location	chr2:127456896-127456897
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127452820..127454923-chr2:127455408..127457651,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10184704	0.91[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs13400354	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415391	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530148	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs6431173	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6431174	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6568	0.91[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs6732528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7572237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7587965	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
3	chr2:127439800-127457600	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:127443600-127458800	Strong transcription	Primary T cells from cord blood	blood
5	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:127446800-127458200	Weak transcription	NHDF-Ad	bronchial
7	chr2:127447400-127457000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:127450800-127458200	Weak transcription	Small Intestine	intestine
9	chr2:127451200-127457000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:127451400-127458800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:127451400-127459000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:127451600-127457400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:127451600-127457400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:127452200-127458000	Weak transcription	Brain Angular Gyrus	brain
15	chr2:127452800-127457400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:127453200-127461200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:127453600-127457400	Weak transcription	Brain Germinal Matrix	brain
18	chr2:127453800-127457400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:127453800-127457800	Weak transcription	GM12878-XiMat	blood
20	chr2:127454000-127457000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:127454000-127457000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:127454000-127458000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:127454200-127457200	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr2:127454200-127457600	Enhancers	Psoas Muscle	Psoas
25	chr2:127455000-127457400	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:127455000-127460800	Weak transcription	Pancreas	Pancrea
27	chr2:127455200-127457000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:127455200-127457600	Weak transcription	Thymus	Thymus
29	chr2:127455400-127459600	Weak transcription	Right Ventricle	heart
30	chr2:127455600-127457000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:127455600-127457200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:127455600-127458200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:127455600-127460600	Weak transcription	Primary B cells from cord blood	blood
34	chr2:127455800-127457400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:127455800-127457600	Weak transcription	K562	blood
36	chr2:127455800-127458000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:127455800-127460000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:127455800-127462400	Weak transcription	Fetal Intestine Large	intestine
39	chr2:127456000-127457600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:127456000-127457600	Weak transcription	Fetal Thymus	thymus
41	chr2:127456000-127458200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:127456000-127458200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:127456000-127458400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:127456000-127461400	Weak transcription	Esophagus	oesophagus
45	chr2:127456200-127457400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:127456200-127457400	Weak transcription	Spleen	Spleen
47	chr2:127456200-127457600	Weak transcription	Fetal Intestine Small	intestine
48	chr2:127456200-127457600	Weak transcription	NHLF	lung
49	chr2:127456200-127458000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:127456200-127458000	Weak transcription	Primary monocytes fromperipheralblood	blood

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