Variant report

Variant	rs13075849
Chromosome Location	chr3:100712600-100712601
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	ZNF384	chr3:100712177-100712626	K562	blood:	n/a	n/a
2	STAT3	chr3:100711913-100712617	MCF10A-Er-Src	breast:	n/a	chr3:100712383-100712395
3	JUND	chr3:100712038-100712724	SK-N-SH	brain:	n/a	chr3:100712376-100712385 chr3:100712320-100712329
4	POLR2A	chr3:100712592-100712637	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr3:100711068-100712629	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ABI3BP	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10936459	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10936460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13062274	0.87[ASN][1000 genomes]
rs13066740	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13072542	0.87[ASN][1000 genomes]
rs13079773	0.87[ASN][1000 genomes]
rs13080505	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13082728	0.87[ASN][1000 genomes]
rs13090397	0.87[ASN][1000 genomes]
rs13091963	0.98[ASN][1000 genomes]
rs1349198	0.81[AFR][1000 genomes]
rs1449300	0.87[ASN][1000 genomes]
rs1449302	0.87[ASN][1000 genomes]
rs1449305	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449306	0.81[AFR][1000 genomes]
rs1449315	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1449320	0.87[ASN][1000 genomes]
rs16843113	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843116	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843148	0.87[ASN][1000 genomes]
rs16843163	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965214	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254374	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2595914	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2595917	0.99[ASN][1000 genomes]
rs2713757	0.87[ASN][1000 genomes]
rs2713768	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2713769	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2713771	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2713773	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2713774	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2713775	0.99[ASN][1000 genomes]
rs2713776	0.99[ASN][1000 genomes]
rs28365990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2873448	0.87[ASN][1000 genomes]
rs34350012	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34587221	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34670326	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34748077	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35064087	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35290466	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3732895	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3732896	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41273569	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4928060	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56847573	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58004340	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7631509	0.87[ASN][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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100709000-100712600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:100709200-100713000	Active TSS	Stomach Smooth Muscle	stomach
3	chr3:100709800-100712600	Active TSS	Muscle Satellite Cultured Cells	--
4	chr3:100709800-100712600	Active TSS	Fetal Stomach	stomach
5	chr3:100710000-100712800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:100710000-100712800	Active TSS	Fetal Lung	lung
7	chr3:100710200-100712600	Active TSS	Fetal Muscle Trunk	muscle
8	chr3:100710400-100712800	Active TSS	Rectal Smooth Muscle	rectum
9	chr3:100710600-100712600	Active TSS	Fetal Intestine Large	intestine
10	chr3:100711200-100712600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:100711200-100712800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr3:100711600-100712800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:100711800-100713000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:100712000-100712600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:100712400-100712600	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:100712400-100712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:100712400-100712600	Active TSS	A549	lung
18	chr3:100712400-100712600	Weak transcription	NHDF-Ad	bronchial
19	chr3:100712400-100712600	Enhancers	NHEK	skin
20	chr3:100712400-100712600	Enhancers	NHLF	lung
21	chr3:100712400-100712800	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:100712400-100712800	Enhancers	HSMM	muscle
23	chr3:100712400-100712800	Enhancers	HUVEC	blood vessel
24	chr3:100712400-100712800	Enhancers	Osteobl	bone
25	chr3:100712400-100713000	Enhancers	HSMMtube	muscle
26	chr3:100712600-100712800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:100712600-100712800	Weak transcription	Fetal Intestine Large	intestine
28	chr3:100712600-100713000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:100712600-100713000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:100712600-100713000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:100712600-100713000	Enhancers	Brain Substantia Nigra	brain
32	chr3:100712600-100713000	Enhancers	Fetal Kidney	kidney
33	chr3:100712600-100713200	Enhancers	NHDF-Ad	bronchial
34	chr3:100712600-100713400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr3:100712600-100713800	Enhancers	Colon Smooth Muscle	Colon
36	chr3:100712600-100714200	Enhancers	Fetal Stomach	stomach

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