Variant report

Variant	rs1979347
Chromosome Location	chr6:107086584-107086585
allele	A/C
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	SPI1	chr6:107086346-107086649	GM12891	blood:	n/a	n/a
2	SPI1	chr6:107086401-107086672	GM12878	blood:	n/a	chr6:107086651-107086664

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:107071806..107074215-chr6:107085630..107087359,2	K562	blood:
2	chr6:107075518..107078241-chr6:107085915..107088324,3	K562	blood:

Variant related genes	Relation type
RPL21P65	TF binding region
ENSG00000130347	Chromatin interaction
ENSG00000130348	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10485221	0.83[AMR][1000 genomes]
rs10499046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12523666	0.90[CHB][hapmap]
rs12523769	1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12524955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12524961	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12525004	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12525311	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12525436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12526024	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12527773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12528136	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12528406	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12528553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12529961	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12530093	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12663120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12665651	0.95[AMR][1000 genomes]
rs17067217	0.91[CHB][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes]
rs17067219	1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs17067226	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[EUR][1000 genomes]
rs17067245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs17067371	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17067393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17067395	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17067428	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17067432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17067435	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17067443	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17067445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17067469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17067613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17067614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17567332	0.83[AMR][1000 genomes]
rs2353035	1.00[CEU][hapmap]
rs2353041	1.00[CEU][hapmap]
rs2792467	0.91[EUR][1000 genomes]
rs28537731	0.80[AMR][1000 genomes]
rs2883074	0.92[AMR][1000 genomes]
rs3761800	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]
rs3789230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3804339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4276539	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4363071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4946766	1.00[EUR][1000 genomes]
rs4946777	0.83[AMR][1000 genomes]
rs56664576	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56725742	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56845422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58482231	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59480706	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59668897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9372139	0.97[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	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107078000-107090000	Weak transcription	Aorta	Aorta
2	chr6:107078400-107090400	Weak transcription	HSMMtube	muscle
3	chr6:107078600-107086600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:107078600-107086600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:107078600-107087400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:107078600-107087800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:107078600-107088000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:107078600-107088000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:107078600-107088200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:107078600-107089000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:107078600-107089000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:107078600-107089400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:107078600-107089600	Weak transcription	Fetal Intestine Small	intestine
14	chr6:107078600-107089800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr6:107078600-107090000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:107078600-107090000	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:107078600-107090000	Weak transcription	Fetal Stomach	stomach
18	chr6:107078600-107090000	Weak transcription	Right Ventricle	heart
19	chr6:107078600-107090200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:107078600-107090200	Weak transcription	Fetal Intestine Large	intestine
21	chr6:107078600-107090200	Weak transcription	Fetal Lung	lung
22	chr6:107078600-107090200	Weak transcription	Ovary	ovary
23	chr6:107078600-107090400	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:107078600-107090400	Weak transcription	Esophagus	oesophagus
25	chr6:107078600-107090400	Weak transcription	Gastric	stomach
26	chr6:107078600-107090400	Weak transcription	HSMM	muscle
27	chr6:107078600-107090600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:107078600-107090600	Weak transcription	Fetal Brain Female	brain
29	chr6:107078600-107092000	Weak transcription	Brain Germinal Matrix	brain
30	chr6:107078600-107092600	Weak transcription	Brain Anterior Caudate	brain
31	chr6:107078600-107093000	Weak transcription	Colonic Mucosa	Colon
32	chr6:107078600-107100200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:107078600-107100400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:107078600-107103800	Weak transcription	Fetal Brain Male	brain
35	chr6:107078600-107104200	Weak transcription	Brain Angular Gyrus	brain
36	chr6:107078600-107106200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr6:107078600-107106600	Weak transcription	NH-A	brain
38	chr6:107078600-107110200	Weak transcription	NHLF	lung
39	chr6:107078600-107110800	Weak transcription	Fetal Heart	heart
40	chr6:107078600-107115200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:107078600-107125200	Weak transcription	Stomach Mucosa	stomach
42	chr6:107078800-107086600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:107078800-107087400	Weak transcription	HUVEC	blood vessel
44	chr6:107078800-107087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:107078800-107088000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:107078800-107088200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:107078800-107089000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:107078800-107089400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:107078800-107090200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:107078800-107090400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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