Variant report

Variant	rs1550713
Chromosome Location	chr3:105419986-105419987
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12630062	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12633175	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12633624	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16851413	1.00[CEU][hapmap]
rs1972939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2301033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301042	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34078396	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3772534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3862048	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55980746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9657912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv877306	chr3:105372196-105495841	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv877307	chr3:105373836-105465189	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv591242	chr3:105373836-105470134	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv877308	chr3:105373836-105495841	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv877309	chr3:105373836-105542435	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv877310	chr3:105409321-105495841	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
2	chr3:105376000-105438200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:105378000-105420800	Weak transcription	HUVEC	blood vessel
5	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:105378600-105438600	Weak transcription	Spleen	Spleen
7	chr3:105379000-105437400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:105379200-105440400	Weak transcription	Thymus	Thymus
9	chr3:105387200-105420800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:105388400-105421000	Weak transcription	Gastric	stomach
11	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
12	chr3:105393600-105420800	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:105394200-105438800	Weak transcription	NHEK	skin
14	chr3:105396000-105420200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:105396000-105420800	Weak transcription	Brain Angular Gyrus	brain
16	chr3:105396000-105432600	Weak transcription	Pancreas	Pancrea
17	chr3:105396000-105437200	Weak transcription	Psoas Muscle	Psoas
18	chr3:105396000-105437400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:105396000-105438200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:105396000-105438400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr3:105396200-105430400	Weak transcription	Fetal Brain Male	brain
22	chr3:105399600-105420000	Weak transcription	Right Ventricle	heart
23	chr3:105400000-105437200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr3:105400200-105420600	Weak transcription	Brain Anterior Caudate	brain
25	chr3:105400600-105420800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:105401000-105432200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:105401600-105433800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr3:105401800-105420200	Weak transcription	Fetal Intestine Small	intestine
29	chr3:105403600-105420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:105405200-105437200	Weak transcription	NHLF	lung
31	chr3:105405400-105420800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr3:105405800-105421000	Weak transcription	Aorta	Aorta
33	chr3:105406200-105420600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:105407800-105457800	Weak transcription	HepG2	liver
35	chr3:105408400-105440400	Weak transcription	A549	lung
36	chr3:105409000-105427400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:105409000-105441600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:105410800-105437600	Weak transcription	Fetal Heart	heart
39	chr3:105411600-105420800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr3:105412000-105434000	Weak transcription	HMEC	breast
41	chr3:105412200-105420800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:105412400-105420600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:105412400-105420800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:105412400-105420800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:105412400-105437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:105412400-105441600	Weak transcription	Brain Substantia Nigra	brain
47	chr3:105412600-105420200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr3:105412600-105420800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr3:105412600-105420800	Weak transcription	Ovary	ovary
50	chr3:105412600-105437400	Weak transcription	Dnd41	blood

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