Variant report

Variant	rs12744526
Chromosome Location	chr1:246035118-246035119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246024420..246026159-chr1:246033527..246035816,2	K562	blood:
2	chr1:246033705..246036760-chr1:246037432..246040238,3	K562	blood:
3	chr1:246028187..246030314-chr1:246034757..246036995,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10924368	0.88[CHB][hapmap]
rs10924370	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10924371	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10924374	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10924375	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11576912	0.89[CHB][hapmap]
rs11578736	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11586340	0.85[EUR][1000 genomes]
rs12028528	0.94[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12028766	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12030943	0.89[CHB][hapmap]
rs12031034	0.89[CHB][hapmap]
rs12031507	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12036477	0.89[CHB][hapmap]
rs12038045	0.89[CHB][hapmap]
rs12038841	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12040825	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12119771	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12120581	0.87[CHB][hapmap]
rs12123048	0.89[CHB][hapmap]
rs12123605	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12124226	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127706	0.88[CHB][hapmap]
rs1317875	0.88[CHB][hapmap]
rs2153403	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2362258	0.85[EUR][1000 genomes]
rs2362262	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2362583	0.89[CHB][hapmap]
rs34210654	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34466548	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4654062	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4654146	0.88[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs4654148	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4654149	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4654156	0.89[EUR][1000 genomes]
rs4654163	0.84[JPT][hapmap]
rs4654164	0.83[CEU][hapmap];0.83[JPT][hapmap]
rs9287182	0.87[CHB][hapmap]
rs9287188	0.87[CHB][hapmap]
rs9287193	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs9287195	0.81[ASN][1000 genomes]
rs9701262	0.81[ASN][1000 genomes]
rs9725231	0.89[CHB][hapmap]
rs9725264	0.86[CHB][hapmap]
rs9725967	0.88[CHB][hapmap]
rs9728343	0.83[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap]
rs9728929	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007728	chr1:245235174-246156455	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv497871	chr1:245706209-246655353	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv534412	chr1:245747724-246655416	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1003594	chr1:245801793-246649329	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1004412	chr1:245830921-246169054	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv535385	chr1:245830921-246169054	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1011255	chr1:245913512-246065050	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv998801	chr1:245924108-246131115	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv535386	chr1:245924108-246131115	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1014841	chr1:245936464-246143222	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv535387	chr1:245936464-246143222	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1008786	chr1:245948622-246514454	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv535388	chr1:245948622-246514454	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv468805	chr1:245950642-246229245	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv549521	chr1:245950642-246229245	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1004119	chr1:245957145-246813150	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv535389	chr1:245957145-246813150	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv1014529	chr1:245957145-246817877	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	nsv873405	chr1:245959911-246093644	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv1000654	chr1:245966390-246778182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv535392	chr1:245966390-246778182	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	nsv868852	chr1:245969229-246811220	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
23	nsv873406	chr1:245991027-246039231	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv1005074	chr1:245999762-246141613	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv1013699	chr1:246005308-246143361	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv535393	chr1:246005308-246143361	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
27	nsv1003768	chr1:246024121-246169054	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
28	esv2756893	chr1:246028579-246116002	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
29	esv2759011	chr1:246028579-246116002	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
30	esv1818474	chr1:246029062-246037292	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
31	nsv441746	chr1:246029062-246037292	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
32	esv2569869	chr1:246034890-246036244	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:245991000-246045000	Weak transcription	Spleen	Spleen
2	chr1:245999800-246038400	Weak transcription	Aorta	Aorta
3	chr1:246001800-246056800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:246006800-246041200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:246009600-246038200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:246012800-246049600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:246015400-246038200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:246017800-246036400	Weak transcription	Right Ventricle	heart
9	chr1:246019200-246067400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:246020200-246036000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:246021000-246038200	Weak transcription	Pancreas	Pancrea
12	chr1:246022000-246037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:246022000-246038200	Weak transcription	Gastric	stomach
14	chr1:246022000-246042600	Weak transcription	Fetal Intestine Small	intestine
15	chr1:246022200-246037800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:246023000-246038200	Weak transcription	Fetal Kidney	kidney
17	chr1:246023600-246037000	Weak transcription	Lung	lung
18	chr1:246023600-246038200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:246023600-246038400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:246024400-246038200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:246024800-246037400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:246024800-246037800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:246025000-246036400	Weak transcription	Fetal Brain Male	brain
24	chr1:246025000-246037000	Weak transcription	Left Ventricle	heart
25	chr1:246025200-246036600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:246025400-246037800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:246027000-246037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:246027200-246037600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:246027200-246041600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:246027400-246036600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:246029600-246038200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:246030600-246037400	Enhancers	Fetal Heart	heart
33	chr1:246033200-246037600	Strong transcription	K562	blood
34	chr1:246033400-246035400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:246033800-246038000	Weak transcription	Placenta	Placenta
36	chr1:246033800-246038200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:246033800-246039600	Enhancers	NHDF-Ad	bronchial
38	chr1:246034000-246038000	Enhancers	NH-A	brain
39	chr1:246034600-246035200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:246034600-246036600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:246034600-246038000	Enhancers	NHLF	lung
42	chr1:246034600-246039800	Enhancers	Osteobl	bone
43	chr1:246034800-246035400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:246034800-246035600	Enhancers	Fetal Lung	lung
45	chr1:246034800-246036000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:246034800-246036000	Enhancers	Fetal Stomach	stomach
47	chr1:246034800-246036800	Strong transcription	Primary T cells from cord blood	blood
48	chr1:246034800-246045600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:246035000-246035200	Enhancers	HSMM	muscle
50	chr1:246035000-246036400	Enhancers	Fetal Muscle Leg	muscle

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