Variant report

Variant	rs11586165
Chromosome Location	chr1:186122590-186122591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr1:186121549-186122714	MCF-7	breast:	n/a	n/a
2	EP300	chr1:186121776-186122649	T-47D	breast:	n/a	n/a
3	GATA3	chr1:186121207-186122708	SK-N-SH	brain:	n/a	chr1:186122203-186122212 chr1:186121444-186121453 chr1:186121445-186121462
4	ESR1	chr1:186121648-186122711	T-47D	breast:	n/a	n/a
5	FOSL2	chr1:186121565-186122751	MCF-7	breast:	n/a	n/a
6	CEBPB	chr1:186121674-186122780	MCF-7	breast:	n/a	n/a
7	TCF12	chr1:186121189-186122676	SK-N-SH	brain:	n/a	n/a
8	JUND	chr1:186121601-186122652	T-47D	breast:	n/a	n/a
9	GATA3	chr1:186121680-186122697	T-47D	breast:	n/a	chr1:186122203-186122212
10	ESR1	chr1:186121761-186122650	T-47D	breast:	n/a	n/a
11	EP300	chr1:186121410-186122602	SK-N-SH	brain:	n/a	chr1:186121691-186121705
12	FOXA1	chr1:186121629-186122593	T-47D	breast:	n/a	n/a
13	CEBPB	chr1:186121583-186122820	MCF-7	breast:	n/a	chr1:186121658-186121669
14	ZNF217	chr1:186121376-186122642	MCF-7	breast:	n/a	n/a
15	TCF12	chr1:186121366-186122988	MCF-7	breast:	n/a	n/a
16	ESR1	chr1:186121681-186122630	T-47D	breast:	n/a	n/a
17	FOSL2	chr1:186121631-186122607	MCF-7	breast:	n/a	n/a
18	CEBPB	chr1:186121655-186122687	Hela-S3	cervix:	n/a	chr1:186121658-186121669
19	TEAD4	chr1:186121580-186122642	SK-N-SH	brain:	n/a	n/a
20	SIN3AK20	chr1:186121498-186122719	MCF-7	breast:	n/a	n/a
21	EP300	chr1:186121537-186122821	MCF-7	breast:	n/a	chr1:186121691-186121705
22	GATA3	chr1:186121190-186122728	SK-N-SH	brain:	n/a	chr1:186122203-186122212 chr1:186121444-186121453 chr1:186121445-186121462
23	TCF7L2	chr1:186121799-186122657	MCF-7	breast:	n/a	n/a
24	NR2F2	chr1:186121630-186122712	MCF-7	breast:	n/a	n/a
25	FOXM1	chr1:186121380-186122972	MCF-7	breast:	n/a	n/a
26	GATA3	chr1:186121688-186122614	MCF-7	breast:	n/a	chr1:186122203-186122212
27	NFIC	chr1:186121521-186122619	SK-N-SH	brain:	n/a	n/a
28	TEAD4	chr1:186121713-186122634	MCF-7	breast:	n/a	n/a
29	EP300	chr1:186121182-186122656	SK-N-SH	brain:	n/a	chr1:186121691-186121705
30	RCOR1	chr1:186121655-186122689	Hela-S3	cervix:	n/a	n/a
31	REST	chr1:186121661-186122645	MCF-7	breast:	n/a	n/a
32	JUND	chr1:186121509-186122692	MCF-7	breast:	n/a	n/a
33	JUND	chr1:186121507-186122828	MCF-7	breast:	n/a	n/a
34	GATA3	chr1:186121698-186122604	MCF-7	breast:	n/a	chr1:186122203-186122212
35	JUND	chr1:186121554-186122722	T-47D	breast:	n/a	n/a
36	ESR1	chr1:186121675-186122788	T-47D	breast:	n/a	n/a
37	GATA3	chr1:186121082-186123130	MCF-7	breast:	n/a	chr1:186122203-186122212 chr1:186121444-186121453 chr1:186121445-186121462
38	TCF12	chr1:186121319-186122610	SK-N-SH	brain:	n/a	n/a
39	JUND	chr1:186121346-186122631	SK-N-SH	brain:	n/a	n/a
40	GABPA	chr1:186121724-186122727	MCF-7	breast:	n/a	n/a
41	GATA3	chr1:186121696-186122780	T-47D	breast:	n/a	chr1:186122203-186122212
42	EP300	chr1:186121574-186122719	MCF-7	breast:	n/a	chr1:186121691-186121705
43	JUND	chr1:186121311-186122642	SK-N-SH	brain:	n/a	n/a
44	ESR1	chr1:186121695-186122640	T-47D	breast:	n/a	n/a
45	FOXM1	chr1:186121596-186122751	MCF-7	breast:	n/a	n/a
46	GATA3	chr1:186121249-186122866	MCF-7	breast:	n/a	chr1:186122203-186122212 chr1:186121444-186121453 chr1:186121445-186121462
47	NR2F2	chr1:186121573-186122862	MCF-7	breast:	n/a	n/a
48	ELF1	chr1:186121631-186122769	MCF-7	breast:	n/a	n/a
49	EP300	chr1:186121611-186122859	T-47D	breast:	n/a	chr1:186121691-186121705
50	SIN3AK20	chr1:186121240-186122915	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:186084110..186085893-chr1:186120570..186122700,2	MCF-7	breast:
2	chr1:185953585..185954283-chr1:186121981..186122741,2	MCF-7	breast:
3	chr1:186104914..186107979-chr1:186120191..186122595,3	MCF-7	breast:
4	chr1:186121917..186122845-chr1:186201039..186202141,3	MCF-7	breast:
5	chr1:185615418..185616074-chr1:186121962..186122637,2	MCF-7	breast:
6	chr1:185895832..185898136-chr1:186120386..186122778,2	MCF-7	breast:

Variant related genes	Relation type
HMCN1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11576597	0.83[EUR][1000 genomes]
rs11581389	0.83[EUR][1000 genomes]
rs11584685	0.92[EUR][1000 genomes]
rs11803845	0.92[EUR][1000 genomes]
rs12067376	0.83[EUR][1000 genomes]
rs16825012	1.00[EUR][1000 genomes]
rs16825020	0.85[EUR][1000 genomes]
rs41317473	0.83[EUR][1000 genomes]
rs41317489	1.00[EUR][1000 genomes]
rs41317491	1.00[EUR][1000 genomes]
rs6693069	0.92[EUR][1000 genomes]
rs6695626	1.00[EUR][1000 genomes]
rs72707448	1.00[EUR][1000 genomes]
rs72707452	1.00[EUR][1000 genomes]
rs72707455	1.00[EUR][1000 genomes]
rs72707459	0.92[EUR][1000 genomes]
rs72707472	1.00[EUR][1000 genomes]
rs72707476	1.00[EUR][1000 genomes]
rs72718888	0.83[EUR][1000 genomes]
rs72718900	0.83[EUR][1000 genomes]
rs72720904	1.00[EUR][1000 genomes]
rs72720910	1.00[EUR][1000 genomes]
rs72720911	1.00[EUR][1000 genomes]
rs7518663	1.00[EUR][1000 genomes]
rs9661710	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186109200-186124600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:186113200-186124200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:186113800-186135800	Weak transcription	Ovary	ovary
5	chr1:186114000-186123200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
7	chr1:186115400-186135400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:186116400-186122800	Weak transcription	Adipose Nuclei	Adipose
9	chr1:186116400-186135400	Weak transcription	Aorta	Aorta
10	chr1:186116600-186135400	Weak transcription	Lung	lung
11	chr1:186117200-186135800	Weak transcription	Fetal Lung	lung
12	chr1:186120000-186135200	Weak transcription	Liver	Liver
13	chr1:186120200-186124600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:186120800-186123400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:186120800-186125800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:186121200-186122600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:186121200-186123000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:186121200-186123000	Enhancers	Hela-S3	cervix
19	chr1:186121200-186123200	Enhancers	NHEK	skin
20	chr1:186121400-186123000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:186121400-186123000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:186122000-186123600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:186122000-186123800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:186122200-186123000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:186122200-186123400	Weak transcription	NHLF	lung
26	chr1:186122200-186124000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:186122200-186124000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:186122200-186124000	Weak transcription	NHDF-Ad	bronchial
29	chr1:186122200-186124000	Weak transcription	Osteobl	bone
30	chr1:186122200-186124200	Weak transcription	A549	lung
31	chr1:186122200-186124400	Weak transcription	NH-A	brain
32	chr1:186122200-186125600	Enhancers	HMEC	breast
33	chr1:186122200-186135600	Weak transcription	K562	blood
34	chr1:186122400-186123800	Weak transcription	Muscle Satellite Cultured Cells	--

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