Variant report

Variant	rs12358297
Chromosome Location	chr10:49640051-49640052
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49514655..49517342-chr10:49637868..49640207,2	K562	blood:
2	chr10:49639661..49642619-chr10:49674798..49676427,2	K562	blood:
3	chr10:49605751..49608098-chr10:49638652..49640614,2	K562	blood:
4	chr10:49632219..49636851-chr10:49637055..49643743,11	K562	blood:
5	chr10:49639954..49642271-chr10:49642777..49645613,2	K562	blood:
6	chr10:49513108..49517342-chr10:49638707..49640799,3	K562	blood:
7	chr10:49639013..49641362-chr10:49732442..49734428,2	K562	blood:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10745265	1.00[JPT][hapmap]
rs10776592	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10776593	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10776594	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10857563	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10857564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10857565	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11101285	1.00[JPT][hapmap]
rs11101326	0.84[CEU][hapmap]
rs1112268	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11597435	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11598320	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];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1881735	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1881737	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1881738	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1881740	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1881741	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1919706	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1919707	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1919709	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1997365	1.00[JPT][hapmap]
rs2141516	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2178339	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2377140	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2377141	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2377143	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs2377349	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2463959	0.80[CHB][hapmap]
rs2590382	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2590383	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2590384	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2590385	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2590386	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2590391	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2698758	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2698762	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2698768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2889595	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3813864	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs4012930	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4838404	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs4838405	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4838588	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56078229	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6537559	1.00[JPT][hapmap]
rs7068398	1.00[CEU][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7084326	0.85[EUR][1000 genomes]
rs7097975	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs7898026	0.94[JPT][hapmap]
rs9919504	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[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	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	nsv518744	chr10:49636507-49643226	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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:114 , 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	chr10:49608000-49645600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr10:49612000-49664200	Weak transcription	Thymus	Thymus
5	chr10:49612800-49660200	Weak transcription	Aorta	Aorta
6	chr10:49619000-49664200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:49619600-49645600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:49620600-49643400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:49620800-49643400	Weak transcription	Right Ventricle	heart
10	chr10:49620800-49646800	Weak transcription	Hela-S3	cervix
11	chr10:49620800-49647000	Weak transcription	NHDF-Ad	bronchial
12	chr10:49620800-49647600	Weak transcription	Colonic Mucosa	Colon
13	chr10:49620800-49652400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr10:49620800-49658600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:49621200-49641600	Weak transcription	Small Intestine	intestine
16	chr10:49621200-49641800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr10:49621200-49643400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr10:49621200-49647000	Weak transcription	Fetal Intestine Small	intestine
19	chr10:49621200-49647400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:49621200-49647800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:49621200-49657400	Weak transcription	Brain Hippocampus Middle	brain
22	chr10:49621400-49641600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr10:49621400-49641800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr10:49621400-49643600	Weak transcription	Fetal Brain Male	brain
25	chr10:49621400-49644000	Weak transcription	Fetal Brain Female	brain
26	chr10:49621400-49647600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr10:49621400-49650800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:49621400-49652200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:49621400-49658600	Weak transcription	Brain Substantia Nigra	brain
30	chr10:49621400-49664400	Weak transcription	Brain Angular Gyrus	brain
31	chr10:49621600-49643600	Weak transcription	Colon Smooth Muscle	Colon
32	chr10:49621600-49647800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:49621600-49652200	Weak transcription	Fetal Heart	heart
34	chr10:49623000-49647000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:49623400-49641400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:49623400-49646600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr10:49624200-49642600	Weak transcription	Fetal Intestine Large	intestine
38	chr10:49624600-49664800	Weak transcription	Gastric	stomach
39	chr10:49625200-49646600	Weak transcription	Osteobl	bone
40	chr10:49625600-49646800	Weak transcription	HSMMtube	muscle
41	chr10:49625800-49648600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:49625800-49654400	Weak transcription	A549	lung
43	chr10:49626200-49647600	Weak transcription	GM12878-XiMat	blood
44	chr10:49626400-49647000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:49626400-49647000	Weak transcription	NHEK	skin
46	chr10:49626600-49642800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:49626600-49643600	Weak transcription	Brain Anterior Caudate	brain
48	chr10:49626600-49647000	Weak transcription	HepG2	liver
49	chr10:49626600-49648800	Weak transcription	Lung	lung
50	chr10:49626600-49664400	Weak transcription	Spleen	Spleen

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