Variant report

Variant	rs6786791
Chromosome Location	chr3:45746010-45746011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:45739863..45742007-chr3:45743148..45746239,4	K562	blood:
2	chr3:45730035..45732308-chr3:45745476..45747993,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230530	Chromatin interaction
ENSG00000211456	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28401433	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34458611	0.87[AMR][1000 genomes]
rs58213273	0.85[AMR][1000 genomes]
rs61603235	1.00[AMR][1000 genomes]
rs6778381	0.85[AMR][1000 genomes]
rs6780893	0.85[AMR][1000 genomes]
rs6794096	0.83[YRI][hapmap];0.87[AMR][1000 genomes]
rs72882544	0.85[AMR][1000 genomes]
rs73830458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830459	0.87[AMR][1000 genomes]
rs9811206	1.00[AMR][1000 genomes]
rs9823820	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9827350	0.85[AMR][1000 genomes]
rs9850601	1.00[ASW][hapmap];0.85[AMR][1000 genomes]
rs9861547	0.81[YRI][hapmap];0.87[AMR][1000 genomes]
rs9873753	1.00[ASW][hapmap];0.91[YRI][hapmap];0.87[AMR][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	esv34130	chr3:45609075-45796657	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	21 gene(s)	inside rSNPs	diseases
2	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
3	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6786791	CD3D	trans	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45731600-45747200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:45732400-45747200	Weak transcription	Lung	lung
3	chr3:45732400-45747200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:45732400-45763600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:45732400-45772000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:45732600-45747400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:45732600-45747400	Weak transcription	HSMMtube	muscle
8	chr3:45732600-45747600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:45732600-45757600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:45733000-45747600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:45733000-45752000	Weak transcription	Stomach Mucosa	stomach
12	chr3:45733000-45777800	Weak transcription	Colonic Mucosa	Colon
13	chr3:45733200-45747400	Weak transcription	Ovary	ovary
14	chr3:45733400-45752400	Weak transcription	Fetal Brain Male	brain
15	chr3:45733600-45747400	Weak transcription	Brain Germinal Matrix	brain
16	chr3:45733600-45747400	Weak transcription	Spleen	Spleen
17	chr3:45734000-45746200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:45734000-45746200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:45734000-45752400	Weak transcription	Esophagus	oesophagus
20	chr3:45734000-45757600	Weak transcription	Aorta	Aorta
21	chr3:45734200-45746600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:45734200-45747400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:45734200-45778000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:45734400-45752000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:45735000-45746200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:45735000-45746200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:45735200-45747200	Weak transcription	Gastric	stomach
28	chr3:45735200-45747400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:45735200-45772000	Weak transcription	Small Intestine	intestine
30	chr3:45735600-45760200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:45736400-45746200	Weak transcription	Fetal Intestine Large	intestine
32	chr3:45736400-45746200	Weak transcription	Fetal Lung	lung
33	chr3:45736600-45746200	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:45736600-45746600	Weak transcription	Thymus	Thymus
35	chr3:45736600-45747400	Weak transcription	Left Ventricle	heart
36	chr3:45736600-45747400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:45736600-45747600	Weak transcription	Right Atrium	heart
38	chr3:45736600-45753600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:45737000-45747200	Weak transcription	Right Ventricle	heart
40	chr3:45737400-45747400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:45738000-45747400	Weak transcription	NHEK	skin
42	chr3:45738200-45747200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:45738800-45746200	Weak transcription	NH-A	brain
44	chr3:45740600-45752400	Weak transcription	Fetal Stomach	stomach
45	chr3:45740600-45757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:45741400-45746600	Weak transcription	Fetal Intestine Small	intestine
47	chr3:45741400-45747400	Weak transcription	Pancreas	Pancrea
48	chr3:45741600-45790000	Strong transcription	Fetal Thymus	thymus
49	chr3:45741800-45757600	Strong transcription	Primary B cells from cord blood	blood
50	chr3:45742200-45746200	Weak transcription	Duodenum Mucosa	Duodenum

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