Variant report

Variant	rs36032715
Chromosome Location	chr3:98528633-98528634
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	POLR2A	chr3:98523635-98529478	U87	brain:	n/a	n/a
2	NFATC1	chr3:98528365-98528850	GM12878	blood:	n/a	n/a
3	ATF2	chr3:98528316-98528778	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:98523592-98529440	U87	brain:	n/a	n/a
5	CTCF	chr3:98528528-98528659	GM12878	blood:	n/a	chr3:98528555-98528568 chr3:98528558-98528571
6	GATA3	chr3:98528602-98528751	SH-SY5Y	brain:	n/a	n/a
7	POLR2A	chr3:98523586-98529440	U87	brain:	n/a	n/a
8	SPI1	chr3:98528511-98528783	HL-60	blood:	n/a	chr3:98528664-98528677
9	RUNX3	chr3:98528133-98528773	GM12878	blood:	n/a	n/a
10	NFIC	chr3:98528113-98528890	GM12878	blood:	n/a	n/a
11	SPI1	chr3:98528462-98528761	GM12891	blood:	n/a	chr3:98528664-98528677
12	POLR2A	chr3:98523621-98529478	U87	brain:	n/a	n/a
13	SPI1	chr3:98528407-98528956	HL-60	blood:	n/a	chr3:98528664-98528677
14	EBF1	chr3:98528220-98528733	GM12878	blood:	n/a	n/a
15	FOXM1	chr3:98528268-98528854	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98310981..98313806-chr3:98526146..98529080,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-26P	TF binding region
ENSG00000080819	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10428160	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10589669	0.85[EUR][1000 genomes]
rs11552978	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12107272	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12108018	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12108142	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13059624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13065136	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13068317	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13072410	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13074614	0.87[EUR][1000 genomes]
rs13074787	0.81[EUR][1000 genomes]
rs13076960	0.87[EUR][1000 genomes]
rs13078549	0.81[EUR][1000 genomes]
rs13079960	0.91[AMR][1000 genomes]
rs13080057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13081992	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13083238	0.87[EUR][1000 genomes]
rs13083613	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13083934	0.87[EUR][1000 genomes]
rs13084692	0.87[EUR][1000 genomes]
rs13087627	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13087631	0.87[EUR][1000 genomes]
rs13088532	0.80[AMR][1000 genomes]
rs13091170	0.85[EUR][1000 genomes]
rs13091236	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13093128	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13096085	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13097876	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13100915	0.84[EUR][1000 genomes]
rs13100937	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34008360	0.87[EUR][1000 genomes]
rs34269725	0.84[EUR][1000 genomes]
rs34279227	0.87[EUR][1000 genomes]
rs34284740	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34394867	0.91[AMR][1000 genomes]
rs34428696	0.83[EUR][1000 genomes]
rs34470469	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34479374	0.91[AMR][1000 genomes]
rs34489202	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34688367	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34711372	0.87[EUR][1000 genomes]
rs34725039	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34826460	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34848749	0.87[EUR][1000 genomes]
rs34860591	0.89[EUR][1000 genomes]
rs34951301	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35006699	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35025156	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35076733	0.85[EUR][1000 genomes]
rs35098355	0.87[EUR][1000 genomes]
rs35103318	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35219252	0.87[EUR][1000 genomes]
rs35234681	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35239055	0.87[EUR][1000 genomes]
rs35312318	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35366262	0.87[EUR][1000 genomes]
rs35422064	0.87[EUR][1000 genomes]
rs35499232	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35514544	0.84[EUR][1000 genomes]
rs35526367	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35539438	0.89[EUR][1000 genomes]
rs35592768	0.91[AMR][1000 genomes]
rs35764973	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35914268	0.87[EUR][1000 genomes]
rs35947493	0.91[AMR][1000 genomes]
rs35947806	0.87[EUR][1000 genomes]
rs36098932	0.84[EUR][1000 genomes]
rs36157152	0.84[EUR][1000 genomes]
rs36175276	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41267851	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55644421	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56083233	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56094988	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56246599	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56408882	0.91[AMR][1000 genomes]
rs6764579	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6805362	0.87[EUR][1000 genomes]
rs71311393	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71311394	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71311397	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71311398	0.87[EUR][1000 genomes]
rs71311402	0.87[EUR][1000 genomes]
rs71313504	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71313508	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71313509	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71313510	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71313511	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7614053	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1009032	chr3:98514221-98607721	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98484800-98529800	Weak transcription	Primary B cells from cord blood	blood
2	chr3:98503400-98576400	Weak transcription	Gastric	stomach
3	chr3:98504600-98534800	Weak transcription	Small Intestine	intestine
4	chr3:98507800-98529000	Weak transcription	Brain Substantia Nigra	brain
5	chr3:98513600-98536600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:98513600-98539200	Weak transcription	Colonic Mucosa	Colon
7	chr3:98515600-98533400	Weak transcription	Fetal Intestine Small	intestine
8	chr3:98516800-98544000	Weak transcription	Spleen	Spleen
9	chr3:98517200-98531400	Weak transcription	Hela-S3	cervix
10	chr3:98522400-98533800	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr3:98523400-98531400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:98523600-98533800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:98523600-98535200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:98523800-98529200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:98523800-98529200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr3:98523800-98529200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr3:98523800-98529400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:98523800-98529400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:98523800-98529600	Strong transcription	Fetal Lung	lung
20	chr3:98523800-98530000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:98523800-98530200	Strong transcription	Dnd41	blood
22	chr3:98523800-98530400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr3:98523800-98530400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:98523800-98530600	Strong transcription	HUVEC	blood vessel
25	chr3:98523800-98531400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:98523800-98531400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:98523800-98533600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:98523800-98533600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:98523800-98533800	Strong transcription	NHDF-Ad	bronchial
30	chr3:98523800-98535000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:98523800-98543800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:98524000-98543600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:98524200-98530400	Strong transcription	NHLF	lung
34	chr3:98524200-98544200	Strong transcription	HSMM	muscle
35	chr3:98524800-98530400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:98525400-98529200	Genic enhancers	NH-A	brain
37	chr3:98525600-98552400	Weak transcription	Right Ventricle	heart
38	chr3:98526200-98543200	Weak transcription	Lung	lung
39	chr3:98526400-98529200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr3:98526400-98532000	Weak transcription	Esophagus	oesophagus
41	chr3:98526400-98533600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:98526400-98535600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr3:98526400-98536000	Weak transcription	Aorta	Aorta
44	chr3:98526400-98538200	Weak transcription	GM12878-XiMat	blood
45	chr3:98526400-98539200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr3:98526400-98539400	Weak transcription	Fetal Brain Male	brain
47	chr3:98526400-98542800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:98526400-98544200	Weak transcription	Brain Angular Gyrus	brain
49	chr3:98526400-98545000	Weak transcription	Psoas Muscle	Psoas
50	chr3:98526600-98533800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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