Variant report

Variant	rs12048257
Chromosome Location	chr1:10786581-10786582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10785675..10789087-chr1:10792936..10797329,5	K562	blood:
2	chr1:10785941..10789087-chr1:10792936..10795105,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12066520	0.87[EUR][1000 genomes]
rs12568512	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17035599	0.86[EUR][1000 genomes]
rs190774	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1828181	chr1:10673130-10829937	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1014003	chr1:10675978-10788624	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1014818	chr1:10675978-10846823	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv29966	chr1:10676800-10874152	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv828030	chr1:10677562-10795161	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv871191	chr1:10684098-10796866	Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv464838	chr1:10684098-10842021	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv545400	chr1:10684098-10842021	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1006689	chr1:10688713-10822684	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv465061	chr1:10690948-10796866	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv545402	chr1:10690948-10796866	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv871070	chr1:10690948-10796866	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv870923	chr1:10694125-10801585	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv525693	chr1:10694125-10840905	Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv870849	chr1:10694125-10894724	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv529981	chr1:10697093-11353487	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
18	nsv1013429	chr1:10698017-10788624	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv1007225	chr1:10703941-10788624	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv1002618	chr1:10703941-10822684	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv1014705	chr1:10703941-10840824	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv832314	chr1:10704811-10859919	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
23	nsv871469	chr1:10710255-10801585	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	esv2757723	chr1:10742502-11055147	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
25	esv2758921	chr1:10742502-11055147	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
26	nsv465172	chr1:10757199-10796866	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
27	nsv545404	chr1:10757199-10796866	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
28	nsv871905	chr1:10757199-10801585	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
29	nsv465283	chr1:10767902-10815421	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	nsv545405	chr1:10767902-10815421	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10778200-10789800	Enhancers	Left Ventricle	heart
2	chr1:10780400-10788400	Enhancers	Lung	lung
3	chr1:10781200-10788400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:10781200-10789400	Enhancers	Stomach Mucosa	stomach
5	chr1:10782400-10787000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:10782400-10788400	Enhancers	Pancreas	Pancrea
7	chr1:10782400-10788800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:10782600-10788400	Enhancers	Psoas Muscle	Psoas
9	chr1:10782600-10788600	Enhancers	Colon Smooth Muscle	Colon
10	chr1:10782600-10788800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:10783200-10789800	Enhancers	Fetal Lung	lung
12	chr1:10783400-10789800	Bivalent Enhancer	Fetal Stomach	stomach
13	chr1:10783600-10788200	Enhancers	Rectal Smooth Muscle	rectum
14	chr1:10783800-10787400	Enhancers	Fetal Brain Female	brain
15	chr1:10783800-10787600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr1:10783800-10788200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:10783800-10793600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:10784200-10787400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:10784200-10788200	Enhancers	Liver	Liver
20	chr1:10784400-10787000	Enhancers	Fetal Brain Male	brain
21	chr1:10784400-10790000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:10784800-10790800	Enhancers	Fetal Muscle Leg	muscle
23	chr1:10784800-10795600	Weak transcription	HSMMtube	muscle
24	chr1:10785000-10786800	Enhancers	Brain Germinal Matrix	brain
25	chr1:10785000-10790600	Weak transcription	Hela-S3	cervix
26	chr1:10785200-10789800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:10785200-10790000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:10785200-10790400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr1:10785200-10794000	Weak transcription	Colonic Mucosa	Colon
30	chr1:10785400-10789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:10785400-10789800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:10785600-10786800	Enhancers	Brain Hippocampus Middle	brain
33	chr1:10785600-10787000	Enhancers	Fetal Kidney	kidney
34	chr1:10785600-10787400	Enhancers	NHEK	skin
35	chr1:10785600-10788400	Enhancers	Brain Anterior Caudate	brain
36	chr1:10785600-10788400	Enhancers	Right Ventricle	heart
37	chr1:10785600-10790000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr1:10785800-10787400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:10785800-10788200	Enhancers	Gastric	stomach
40	chr1:10786000-10786600	Genic enhancers	Esophagus	oesophagus
41	chr1:10786200-10786600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:10786200-10786600	Enhancers	Stomach Smooth Muscle	stomach
43	chr1:10786200-10787200	Weak transcription	Right Atrium	heart
44	chr1:10786200-10787600	Enhancers	HMEC	breast
45	chr1:10786200-10788000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:10786400-10786800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:10786400-10786800	Weak transcription	A549	lung
48	chr1:10786400-10787000	Weak transcription	Aorta	Aorta
49	chr1:10786400-10787200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:10786400-10787400	Enhancers	Fetal Heart	heart

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