Variant report

Variant	rs6778381
Chromosome Location	chr3:45700317-45700318
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:45571084..45572854-chr3:45698499..45701154,2	K562	blood:
2	chr3:45699088..45701384-chr3:45704858..45706359,2	K562	blood:
3	chr3:45636229..45637811-chr3:45698938..45701858,2	K562	blood:
4	chr3:45633869..45636023-chr3:45700075..45701839,2	K562	blood:
5	chr3:45635341..45637795-chr3:45698641..45700421,2	K562	blood:

Variant related genes	Relation type
ENSG00000144791	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13316599	0.83[AMR][1000 genomes]
rs28401433	0.85[AMR][1000 genomes]
rs56404048	0.83[AMR][1000 genomes]
rs57013034	0.83[AMR][1000 genomes]
rs58213273	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61603235	0.85[AMR][1000 genomes]
rs6780893	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6786791	0.85[AMR][1000 genomes]
rs72882544	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830443	0.83[AMR][1000 genomes]
rs73830458	0.85[AMR][1000 genomes]
rs73830463	0.83[AMR][1000 genomes]
rs9811206	0.85[AMR][1000 genomes]
rs9823820	0.85[AMR][1000 genomes]
rs9827350	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9850601	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45642200-45705800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:45678800-45701400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:45685400-45707200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:45686200-45701400	Weak transcription	Ovary	ovary
5	chr3:45686800-45700800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:45687400-45701400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr3:45687800-45701600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:45688000-45705800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:45688000-45706000	Weak transcription	Fetal Stomach	stomach
10	chr3:45689200-45701400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr3:45689200-45701400	Weak transcription	Small Intestine	intestine
12	chr3:45689200-45701600	Weak transcription	Gastric	stomach
13	chr3:45689200-45701800	Weak transcription	Aorta	Aorta
14	chr3:45689200-45707400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:45689400-45705800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:45689400-45705800	Weak transcription	Fetal Intestine Small	intestine
17	chr3:45689400-45705800	Weak transcription	Thymus	Thymus
18	chr3:45689600-45701000	Weak transcription	HSMM	muscle
19	chr3:45689600-45705400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr3:45689600-45707400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:45690200-45700600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:45691600-45701400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:45691800-45705600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:45691800-45705800	Weak transcription	Primary T cells from cord blood	blood
25	chr3:45694200-45713800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr3:45694600-45700800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:45694600-45705600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr3:45694600-45705800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:45695000-45706200	Weak transcription	Esophagus	oesophagus
30	chr3:45695200-45705600	Weak transcription	Lung	lung
31	chr3:45695200-45706800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:45695400-45706200	Weak transcription	Fetal Brain Male	brain
33	chr3:45696000-45700400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:45696000-45700600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:45696000-45700800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:45696000-45700800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:45696000-45701200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:45696000-45701400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:45696000-45705800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:45696200-45705400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr3:45696600-45702400	Enhancers	Liver	Liver
42	chr3:45696800-45700800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:45697000-45701200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:45697400-45701400	Weak transcription	Adipose Nuclei	Adipose
45	chr3:45697400-45705600	Weak transcription	Left Ventricle	heart
46	chr3:45697600-45705600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:45697800-45702600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:45697800-45705800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:45697800-45705800	Weak transcription	NHEK	skin
50	chr3:45697800-45706000	Weak transcription	Rectal Mucosa Donor 29	rectum

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