Variant report

Variant	rs12745847
Chromosome Location	chr1:113675449-113675450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113666319..113668894-chr1:113673177..113675723,2	MCF-7	breast:
2	chr1:113674756..113677220-chr1:113688268..113690973,2	K562	blood:
3	chr1:113667246..113670689-chr1:113673900..113677350,3	K562	blood:

Variant related genes	Relation type
ENSG00000237278	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10494148	0.86[EUR][1000 genomes]
rs10494149	0.89[EUR][1000 genomes]
rs10494150	0.89[EUR][1000 genomes]
rs10494152	0.89[EUR][1000 genomes]
rs10776764	0.91[EUR][1000 genomes]
rs11102590	0.88[EUR][1000 genomes]
rs11102591	0.98[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070586	0.87[EUR][1000 genomes]
rs12072108	0.87[EUR][1000 genomes]
rs12073607	0.87[EUR][1000 genomes]
rs12123070	0.89[EUR][1000 genomes]
rs12123194	0.89[EUR][1000 genomes]
rs12123876	0.89[EUR][1000 genomes]
rs12125209	0.84[EUR][1000 genomes]
rs12125253	0.84[EUR][1000 genomes]
rs12125281	0.89[EUR][1000 genomes]
rs12125282	0.89[EUR][1000 genomes]
rs12126040	0.89[EUR][1000 genomes]
rs12126180	0.89[EUR][1000 genomes]
rs12126412	0.89[EUR][1000 genomes]
rs12126415	0.89[EUR][1000 genomes]
rs12127119	0.89[EUR][1000 genomes]
rs12127186	0.89[EUR][1000 genomes]
rs12129741	0.89[EUR][1000 genomes]
rs12129773	0.89[EUR][1000 genomes]
rs12129924	0.84[EUR][1000 genomes]
rs12130429	0.84[EUR][1000 genomes]
rs12130787	0.89[EUR][1000 genomes]
rs12131406	0.82[EUR][1000 genomes]
rs12132547	0.89[EUR][1000 genomes]
rs12133159	0.82[EUR][1000 genomes]
rs12133521	0.82[EUR][1000 genomes]
rs12134261	0.89[EUR][1000 genomes]
rs12134347	0.87[EUR][1000 genomes]
rs12136369	0.89[EUR][1000 genomes]
rs12137440	0.89[EUR][1000 genomes]
rs12141374	0.84[EUR][1000 genomes]
rs12141890	0.86[EUR][1000 genomes]
rs1216791	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216796	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216797	0.94[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1216872	0.87[EUR][1000 genomes]
rs1216873	0.85[EUR][1000 genomes]
rs1216884	0.82[EUR][1000 genomes]
rs12404563	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12405087	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723657	0.84[EUR][1000 genomes]
rs12728957	0.89[EUR][1000 genomes]
rs12732564	0.87[EUR][1000 genomes]
rs12736831	0.89[EUR][1000 genomes]
rs12748429	0.84[EUR][1000 genomes]
rs12757593	0.88[EUR][1000 genomes]
rs12760482	0.84[EUR][1000 genomes]
rs1316767	0.84[EUR][1000 genomes]
rs1661	0.88[EUR][1000 genomes]
rs17031099	0.88[EUR][1000 genomes]
rs17031158	0.84[EUR][1000 genomes]
rs17031160	0.84[EUR][1000 genomes]
rs1933656	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1933660	0.89[EUR][1000 genomes]
rs1999905	0.89[EUR][1000 genomes]
rs1999906	0.89[EUR][1000 genomes]
rs2185105	0.84[EUR][1000 genomes]
rs2185106	0.84[EUR][1000 genomes]
rs2359709	0.83[EUR][1000 genomes]
rs2359710	0.84[EUR][1000 genomes]
rs2359711	0.84[EUR][1000 genomes]
rs34236373	0.86[EUR][1000 genomes]
rs34441710	0.89[EUR][1000 genomes]
rs35368423	0.89[EUR][1000 genomes]
rs35470019	0.89[EUR][1000 genomes]
rs35737003	0.85[EUR][1000 genomes]
rs35793987	0.87[EUR][1000 genomes]
rs35822819	0.82[EUR][1000 genomes]
rs36049267	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240536	0.87[EUR][1000 genomes]
rs4427400	0.95[EUR][1000 genomes]
rs4630126	0.87[EUR][1000 genomes]
rs4839290	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839293	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4839295	0.99[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4839296	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839297	0.89[EUR][1000 genomes]
rs56204018	0.87[EUR][1000 genomes]
rs6537773	0.99[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537777	0.89[EUR][1000 genomes]
rs6683099	0.94[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67028986	0.89[EUR][1000 genomes]
rs67038449	0.89[EUR][1000 genomes]
rs72685622	0.87[EUR][1000 genomes]
rs749956	0.88[EUR][1000 genomes]
rs7513596	0.89[EUR][1000 genomes]
rs7513698	0.89[EUR][1000 genomes]
rs7515810	0.84[EUR][1000 genomes]
rs7521854	0.83[EUR][1000 genomes]
rs7540970	0.84[EUR][1000 genomes]
rs7543653	0.88[EUR][1000 genomes]
rs7548091	0.88[EUR][1000 genomes]
rs7551138	0.88[EUR][1000 genomes]
rs7556148	0.87[EUR][1000 genomes]
rs7556534	0.82[EUR][1000 genomes]
rs9628702	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
8	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
9	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
10	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113663400-113683400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:113667200-113675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:113667200-113678400	Weak transcription	Pancreas	Pancrea
4	chr1:113667200-113682400	Weak transcription	Fetal Brain Male	brain
5	chr1:113667200-113683400	Weak transcription	Esophagus	oesophagus
6	chr1:113667200-113683400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:113667200-113683400	Weak transcription	A549	lung
8	chr1:113667400-113679000	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:113667400-113685200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:113667600-113683600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:113667800-113683400	Weak transcription	Gastric	stomach
12	chr1:113667800-113683600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:113668200-113683200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:113668200-113683600	Weak transcription	Small Intestine	intestine
15	chr1:113668600-113675800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:113669600-113676400	Weak transcription	HepG2	liver
17	chr1:113669600-113676600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:113669600-113679000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:113669600-113679800	Weak transcription	K562	blood
20	chr1:113669600-113680000	Weak transcription	Fetal Intestine Large	intestine
21	chr1:113669600-113683000	Weak transcription	Stomach Mucosa	stomach
22	chr1:113669600-113683400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:113669600-113683400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:113669600-113683400	Weak transcription	Fetal Lung	lung
25	chr1:113669600-113683400	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:113669600-113683400	Weak transcription	Lung	lung
27	chr1:113669600-113683400	Weak transcription	NHEK	skin
28	chr1:113669600-113683600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:113669600-113685400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:113669600-113689400	Weak transcription	Thymus	Thymus
31	chr1:113669800-113675600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:113669800-113676400	Weak transcription	Dnd41	blood
33	chr1:113669800-113677200	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:113669800-113679000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:113669800-113679400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:113669800-113683000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:113669800-113683000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:113669800-113683400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:113669800-113683400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:113669800-113683400	Weak transcription	Hela-S3	cervix
41	chr1:113669800-113683400	Weak transcription	NH-A	brain
42	chr1:113669800-113683600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:113669800-113683800	Weak transcription	Fetal Kidney	kidney
44	chr1:113669800-113683800	Weak transcription	HSMMtube	muscle
45	chr1:113669800-113685000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:113669800-113685000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:113669800-113690000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:113670000-113676600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:113670000-113683400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:113670000-113683400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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