Variant report

Variant	rs1260130
Chromosome Location	chr9:5811909-5811910
allele	C/T
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	WRNIP1	chr9:5811783-5811932	GM12878	blood:	n/a	n/a
2	POLR2A	chr9:5811800-5812020	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ERMP1	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10733517	1.00[TSI][hapmap]
rs10758734	1.00[TSI][hapmap]
rs10815335	1.00[TSI][hapmap]
rs10975340	1.00[EUR][1000 genomes]
rs1141025	1.00[EUR][1000 genomes]
rs12339889	1.00[MEX][hapmap]
rs12342282	1.00[MEX][hapmap]
rs1260128	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1260132	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1260134	0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1260135	1.00[EUR][1000 genomes]
rs16923356	1.00[MEX][hapmap]
rs16923371	1.00[MEX][hapmap]
rs1745887	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1745888	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1776008	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1993912	1.00[MEX][hapmap]
rs2150703	1.00[TSI][hapmap]
rs2476262	0.81[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2760408	1.00[EUR][1000 genomes]
rs2760409	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2760410	0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2797512	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2797514	1.00[EUR][1000 genomes]
rs2797516	0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2797517	0.84[AFR][1000 genomes]
rs2797519	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3739649	1.00[TSI][hapmap]
rs4395943	1.00[TSI][hapmap]
rs4742131	1.00[TSI][hapmap]
rs58370080	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6477001	1.00[EUR][1000 genomes]
rs6477002	1.00[EUR][1000 genomes]
rs7024130	1.00[TSI][hapmap]
rs7034210	1.00[TSI][hapmap]
rs7037680	0.97[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7038243	1.00[YRI][hapmap]
rs7042100	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7042539	0.81[AFR][1000 genomes]
rs7046793	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73377834	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017103	chr9:5509431-5987907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv539965	chr9:5509431-5987907	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv892151	chr9:5602528-5841438	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv3331803	chr9:5766129-5905103	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5779200-5832200	Weak transcription	Fetal Brain Male	brain
2	chr9:5779600-5814000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:5779600-5827800	Weak transcription	Small Intestine	intestine
4	chr9:5784200-5831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:5786800-5832200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:5787000-5830200	Weak transcription	Dnd41	blood
7	chr9:5787200-5815000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:5787400-5832000	Weak transcription	Fetal Brain Female	brain
9	chr9:5787600-5812400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:5787600-5812800	Weak transcription	Lung	lung
11	chr9:5787600-5817600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr9:5787600-5831600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:5787600-5832000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:5787600-5832200	Weak transcription	Esophagus	oesophagus
15	chr9:5787800-5818000	Weak transcription	HSMM	muscle
16	chr9:5788000-5817600	Weak transcription	K562	blood
17	chr9:5789800-5825200	Weak transcription	Gastric	stomach
18	chr9:5790000-5824000	Weak transcription	Pancreas	Pancrea
19	chr9:5792000-5814000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:5794600-5821800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr9:5794600-5825600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr9:5797400-5831400	Weak transcription	Psoas Muscle	Psoas
23	chr9:5798400-5831200	Weak transcription	Colon Smooth Muscle	Colon
24	chr9:5799400-5817600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:5799800-5813200	Weak transcription	NHLF	lung
26	chr9:5799800-5814000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:5799800-5814000	Weak transcription	Brain Anterior Caudate	brain
28	chr9:5799800-5814000	Weak transcription	Brain Hippocampus Middle	brain
29	chr9:5799800-5814600	Weak transcription	HSMMtube	muscle
30	chr9:5799800-5816600	Weak transcription	Placenta	Placenta
31	chr9:5799800-5818000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:5799800-5824000	Weak transcription	Aorta	Aorta
33	chr9:5799800-5825200	Weak transcription	Brain Angular Gyrus	brain
34	chr9:5799800-5825400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:5799800-5831600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:5799800-5831800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:5799800-5831800	Weak transcription	HUVEC	blood vessel
38	chr9:5800400-5826400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr9:5801200-5823800	Weak transcription	Fetal Heart	heart
40	chr9:5801200-5824800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr9:5801800-5823000	Weak transcription	Fetal Intestine Small	intestine
42	chr9:5802000-5820800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:5802000-5824200	Weak transcription	Thymus	Thymus
44	chr9:5802000-5828200	Weak transcription	Stomach Mucosa	stomach
45	chr9:5802200-5817000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:5802200-5825200	Weak transcription	Fetal Lung	lung
47	chr9:5802200-5831200	Weak transcription	Colonic Mucosa	Colon
48	chr9:5802200-5831600	Weak transcription	Fetal Kidney	kidney
49	chr9:5802400-5817600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:5802800-5831400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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