Variant report

Variant	rs6787175
Chromosome Location	chr3:105416421-105416422
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105409741..105412023-chr3:105415903..105417976,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11708360	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13061514	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1372982	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs1522287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1546733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1550711	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1561919	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1584028	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16851440	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1867191	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2034157	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2120105	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes]
rs2293148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2301044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301046	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35903551	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3772539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4476538	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4894940	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4894944	0.93[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6437612	0.80[EUR][1000 genomes]
rs6767808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6777124	0.81[ASN][1000 genomes]
rs6800344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726443	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs7612189	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7640740	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7645026	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7646159	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9832882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9873655	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9876007	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6787175	CBLB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105373000-105419600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:105373600-105419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:105375800-105419600	Weak transcription	Colonic Mucosa	Colon
4	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
5	chr3:105376000-105438200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:105378000-105420800	Weak transcription	HUVEC	blood vessel
8	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:105378600-105438600	Weak transcription	Spleen	Spleen
10	chr3:105379000-105437400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:105379200-105440400	Weak transcription	Thymus	Thymus
12	chr3:105387200-105420800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:105388400-105421000	Weak transcription	Gastric	stomach
14	chr3:105388600-105419800	Weak transcription	Brain Germinal Matrix	brain
15	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
16	chr3:105393600-105420800	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:105394200-105438800	Weak transcription	NHEK	skin
18	chr3:105396000-105420200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:105396000-105420800	Weak transcription	Brain Angular Gyrus	brain
20	chr3:105396000-105432600	Weak transcription	Pancreas	Pancrea
21	chr3:105396000-105437200	Weak transcription	Psoas Muscle	Psoas
22	chr3:105396000-105437400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:105396000-105438200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:105396000-105438400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:105396200-105430400	Weak transcription	Fetal Brain Male	brain
26	chr3:105397800-105419600	Weak transcription	Fetal Thymus	thymus
27	chr3:105399600-105419600	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:105399600-105420000	Weak transcription	Right Ventricle	heart
29	chr3:105400000-105437200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr3:105400200-105420600	Weak transcription	Brain Anterior Caudate	brain
31	chr3:105400400-105419600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:105400600-105419600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:105400600-105419600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr3:105400600-105419600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:105400600-105420800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:105401000-105419600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:105401000-105432200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr3:105401600-105419600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:105401600-105419600	Weak transcription	Lung	lung
40	chr3:105401600-105433800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr3:105401800-105419600	Weak transcription	Fetal Stomach	stomach
42	chr3:105401800-105420200	Weak transcription	Fetal Intestine Small	intestine
43	chr3:105403600-105420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:105405200-105437200	Weak transcription	NHLF	lung
45	chr3:105405400-105420800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:105405800-105421000	Weak transcription	Aorta	Aorta
47	chr3:105406200-105420600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr3:105406400-105416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr3:105407800-105457800	Weak transcription	HepG2	liver
50	chr3:105408400-105440400	Weak transcription	A549	lung

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