Variant report

Variant	rs11598320
Chromosome Location	chr10:49647267-49647268
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49647174..49649169-chr10:49659703..49661995,2	MCF-7	breast:
2	chr10:49646827..49648798-chr10:49677849..49680976,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10745265	0.93[JPT][hapmap]
rs10776592	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10776593	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10776594	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10857563	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10857564	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10857565	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11101285	0.93[JPT][hapmap]
rs11101326	0.84[CEU][hapmap]
rs1112268	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11597435	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12358297	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17780725	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1881735	1.00[CEU][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1881737	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1881738	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1881740	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1881741	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1919706	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1919707	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1919709	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1997365	0.93[JPT][hapmap]
rs2141516	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2178339	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2377140	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2377141	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2377143	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs2377349	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2590382	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2590383	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2590384	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2590385	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2590386	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2590391	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2698758	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2698762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2698768	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2889595	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3813864	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs4012930	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4838404	0.81[JPT][hapmap]
rs4838405	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4838588	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56078229	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6537559	0.93[JPT][hapmap]
rs7068398	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7084326	0.87[EUR][1000 genomes]
rs7097975	0.86[JPT][hapmap]
rs7898026	0.88[JPT][hapmap]
rs9919504	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1039508	chr10:49595718-49654403	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv519701	chr10:49636507-49651349	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49607600-49647800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:49607600-49652400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:49612000-49664200	Weak transcription	Thymus	Thymus
4	chr10:49612800-49660200	Weak transcription	Aorta	Aorta
5	chr10:49619000-49664200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:49620800-49647600	Weak transcription	Colonic Mucosa	Colon
7	chr10:49620800-49652400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr10:49620800-49658600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:49621200-49647400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:49621200-49647800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:49621200-49657400	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:49621400-49647600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:49621400-49650800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:49621400-49652200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:49621400-49658600	Weak transcription	Brain Substantia Nigra	brain
16	chr10:49621400-49664400	Weak transcription	Brain Angular Gyrus	brain
17	chr10:49621600-49647800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:49621600-49652200	Weak transcription	Fetal Heart	heart
19	chr10:49624600-49664800	Weak transcription	Gastric	stomach
20	chr10:49625800-49648600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:49625800-49654400	Weak transcription	A549	lung
22	chr10:49626200-49647600	Weak transcription	GM12878-XiMat	blood
23	chr10:49626600-49648800	Weak transcription	Lung	lung
24	chr10:49626600-49664400	Weak transcription	Spleen	Spleen
25	chr10:49630400-49652400	Weak transcription	Pancreas	Pancrea
26	chr10:49632800-49647800	Weak transcription	Psoas Muscle	Psoas
27	chr10:49635200-49652200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr10:49635400-49652800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr10:49639000-49653000	Weak transcription	Fetal Stomach	stomach
30	chr10:49639400-49652600	Weak transcription	Fetal Muscle Leg	muscle
31	chr10:49639600-49652400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr10:49639600-49657800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:49640000-49652200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr10:49640000-49652600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr10:49640400-49652200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr10:49641200-49647800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr10:49641400-49652000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr10:49642000-49648600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr10:49644000-49647400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr10:49644000-49647400	Weak transcription	Colon Smooth Muscle	Colon
41	chr10:49644000-49652600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr10:49644200-49649600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr10:49644200-49651800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr10:49644200-49652800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr10:49644200-49653000	Weak transcription	Brain Germinal Matrix	brain
46	chr10:49644200-49655000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr10:49644200-49664400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr10:49644400-49647600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr10:49644600-49649200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr10:49644600-49650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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