Variant report

Variant	rs12046278
Chromosome Location	chr1:10799577-10799578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10793053..10795572-chr1:10798812..10801250,2	K562	blood:
2	chr1:10798503..10801151-chr1:10807014..10809995,2	K562	blood:
3	chr1:10795746..10798099-chr1:10799422..10802020,2	K562	blood:
4	chr1:10797814..10799876-chr1:10804060..10805794,2	K562	blood:
5	chr1:10798085..10799605-chr8:18870069..18872090,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156011	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17035646	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs284277	0.81[CEU][hapmap]
rs284278	0.86[CEU][hapmap]
rs34071855	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs682178	0.80[EUR][1000 genomes]
rs880315	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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

Variant related diseases (count:1)

Disease	PMID	Source
Systolic blood pressure	19430479	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10792800-10800600	Enhancers	Right Ventricle	heart
2	chr1:10792800-10801600	Enhancers	Fetal Heart	heart
3	chr1:10793000-10800800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:10793600-10806400	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:10793800-10800400	Enhancers	Stomach Mucosa	stomach
6	chr1:10794200-10800800	Enhancers	Fetal Brain Male	brain
7	chr1:10794800-10800600	Enhancers	Left Ventricle	heart
8	chr1:10795400-10799600	Enhancers	Lung	lung
9	chr1:10795400-10799600	Enhancers	Spleen	Spleen
10	chr1:10795600-10799600	Enhancers	Colonic Mucosa	Colon
11	chr1:10795600-10800200	Enhancers	Brain Germinal Matrix	brain
12	chr1:10795800-10800000	Enhancers	Pancreas	Pancrea
13	chr1:10795800-10800400	Enhancers	Fetal Brain Female	brain
14	chr1:10796200-10800600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:10796200-10804200	Weak transcription	HSMMtube	muscle
16	chr1:10796400-10802000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:10796400-10804800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:10796600-10800000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr1:10797400-10800600	Enhancers	Fetal Intestine Large	intestine
20	chr1:10797400-10801600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:10797600-10800400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:10797800-10800600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:10797800-10802200	Enhancers	Gastric	stomach
24	chr1:10798000-10800200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:10798000-10802400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:10798400-10800000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr1:10798400-10802000	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:10798600-10799800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:10798600-10800000	Weak transcription	Psoas Muscle	Psoas
30	chr1:10798800-10799600	Weak transcription	Right Atrium	heart
31	chr1:10798800-10804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:10798800-10804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:10798800-10804000	Weak transcription	Liver	Liver
34	chr1:10798800-10804000	Weak transcription	NHEK	skin
35	chr1:10798800-10804800	Weak transcription	Esophagus	oesophagus
36	chr1:10798800-10806000	Weak transcription	HMEC	breast
37	chr1:10798800-10806600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:10798800-10832000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:10799000-10800200	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:10799000-10800200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr1:10799000-10803200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:10799200-10799600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:10799200-10801400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:10799400-10799600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:10799400-10799800	Weak transcription	Small Intestine	intestine
46	chr1:10799400-10800000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:10799400-10800200	Bivalent Enhancer	HepG2	liver
48	chr1:10799400-10800600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr1:10799400-10800800	Genic enhancers	Fetal Intestine Small	intestine
50	chr1:10799400-10802000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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