Variant report

Variant	rs11914715
Chromosome Location	chr3:98498962-98498963
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	POLR2A	chr3:98498865-98499009	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr3:98498824-98499746	HUVEC	blood vessel:	n/a	chr3:98499048-98499057 chr3:98499048-98499057 chr3:98499225-98499241 chr3:98499313-98499323 chr3:98499043-98499057
3	POLR2A	chr3:98498725-98499756	HUVEC	blood vessel:	n/a	n/a
4	FOS	chr3:98498632-98499544	HUVEC	blood vessel:	n/a	chr3:98498966-98498977
5	JUN	chr3:98498760-98499582	HUVEC	blood vessel:	n/a	chr3:98499569-98499580
6	GATA3	chr3:98498508-98499601	SK-N-SH	brain:	n/a	chr3:98499048-98499057 chr3:98499048-98499057 chr3:98499225-98499241 chr3:98499313-98499323
7	POLR2A	chr3:98498615-98499253	U87	brain:	n/a	n/a
8	POLR2A	chr3:98498651-98499815	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr3:98498615-98499298	U87	brain:	n/a	n/a
10	GATA3	chr3:98498706-98499367	SK-N-SH	brain:	n/a	chr3:98499048-98499057 chr3:98499048-98499057 chr3:98499225-98499241 chr3:98499313-98499323

Variant related genes	Relation type
PDLIM1P4	TF binding region
ST3GAL6	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10433438	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10511169	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10935518	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10935542	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap]
rs11716579	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11916285	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12203	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1440154	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16840260	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16846347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17210963	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17278047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs17852693	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1822017	0.94[CEU][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1827158	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2278599	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3772100	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55650073	0.89[EUR][1000 genomes]
rs55662129	0.93[EUR][1000 genomes]
rs55730510	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55988144	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56075614	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56290036	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56322058	0.89[EUR][1000 genomes]
rs6440159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6805605	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes]
rs73136038	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136045	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73136048	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73136057	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73136060	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73138004	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73138027	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73138030	0.93[EUR][1000 genomes]
rs73138048	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73138053	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73138055	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73138058	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73138063	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73138082	0.89[EUR][1000 genomes]
rs73140009	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7614892	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7629550	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7644946	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8179927	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98478800-98515200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:98482600-98501800	Weak transcription	Fetal Stomach	stomach
3	chr3:98483000-98517600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:98483200-98518000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:98483600-98513600	Weak transcription	Brain Germinal Matrix	brain
6	chr3:98483800-98515000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:98484000-98514000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:98484200-98515200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:98484800-98529800	Weak transcription	Primary B cells from cord blood	blood
10	chr3:98489800-98503000	Weak transcription	Psoas Muscle	Psoas
11	chr3:98490200-98525200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:98492200-98517800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:98493800-98499600	Enhancers	Fetal Intestine Large	intestine
14	chr3:98494600-98499200	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:98494600-98506000	Enhancers	Aorta	Aorta
16	chr3:98495800-98499200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:98495800-98499600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:98496000-98499200	Enhancers	NHLF	lung
19	chr3:98496000-98499600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:98496000-98499600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:98496000-98499800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:98496000-98499800	Enhancers	NH-A	brain
23	chr3:98496200-98499000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:98496200-98499200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:98496200-98499400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:98496200-98499600	Enhancers	Brain Cingulate Gyrus	brain
27	chr3:98496200-98499800	Enhancers	Brain Substantia Nigra	brain
28	chr3:98496400-98499400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:98496400-98499800	Enhancers	Brain Anterior Caudate	brain
30	chr3:98496600-98499600	Enhancers	Adipose Nuclei	Adipose
31	chr3:98496600-98503800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:98496800-98499200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:98496800-98499200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr3:98496800-98502800	Weak transcription	Fetal Thymus	thymus
35	chr3:98497000-98524600	Weak transcription	Fetal Brain Male	brain
36	chr3:98497200-98499200	Enhancers	Fetal Kidney	kidney
37	chr3:98497400-98499600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:98497400-98499800	Strong transcription	Dnd41	blood
39	chr3:98497400-98501800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:98497400-98503600	Enhancers	Placenta	Placenta
41	chr3:98497600-98499800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr3:98497600-98502400	Weak transcription	Lung	lung
43	chr3:98497800-98517200	Weak transcription	Fetal Brain Female	brain
44	chr3:98498000-98499200	Enhancers	NHEK	skin
45	chr3:98498000-98499600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:98498000-98499600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr3:98498000-98499800	Enhancers	HMEC	breast
48	chr3:98498000-98500400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:98498000-98500400	Weak transcription	Pancreas	Pancrea
50	chr3:98498000-98501800	Weak transcription	Gastric	stomach

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