Variant report

Variant	rs3804343
Chromosome Location	chr6:107087640-107087641
allele	C/T
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	FOS	chr6:107087412-107087750	HUVEC	blood vessel:	n/a	n/a
2	SPI1	chr6:107087580-107088046	HL-60	blood:	n/a	n/a
3	GATA2	chr6:107087307-107087713	HUVEC	blood vessel:	n/a	chr6:107087489-107087501 chr6:107087487-107087498

No.	Distal block	Cell Line	Cell type
1	chr6:107081802..107084758-chr6:107086846..107089181,2	K562	blood:
2	chr6:107075518..107078241-chr6:107085915..107088324,3	K562	blood:
3	chr6:107076542..107079285-chr6:107086696..107089317,2	K562	blood:
4	chr6:107087373..107089185-chr6:107435277..107437076,2	MCF-7	breast:

Variant related genes	Relation type
RPL21P65	TF binding region
ENSG00000130347	Chromatin interaction
ENSG00000178409	Chromatin interaction
ENSG00000130348	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10499045	0.83[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes]
rs12110543	0.83[JPT][hapmap]
rs12660628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12663415	0.94[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12663879	0.83[JPT][hapmap]
rs1824619	0.83[JPT][hapmap]
rs2035152	0.83[JPT][hapmap]
rs2035154	0.83[JPT][hapmap]
rs2035155	0.83[JPT][hapmap]
rs34221917	0.95[EUR][1000 genomes]
rs3747791	0.83[JPT][hapmap]
rs4946769	0.83[JPT][hapmap]
rs4946771	0.83[JPT][hapmap]
rs56390046	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6568446	0.83[JPT][hapmap]
rs6900830	0.83[JPT][hapmap]
rs6900886	0.83[JPT][hapmap]
rs6905519	0.83[JPT][hapmap]
rs6906495	0.83[JPT][hapmap]
rs6910496	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6919395	0.83[JPT][hapmap]
rs6923868	0.83[JPT][hapmap]
rs6925367	0.83[JPT][hapmap]
rs6925512	0.82[JPT][hapmap]
rs6933064	0.83[JPT][hapmap]
rs72613239	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72613240	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7748400	0.83[JPT][hapmap]
rs7759021	0.83[JPT][hapmap]

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:121 , 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	chr6:107078600-107087800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:107078600-107088000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:107078600-107088000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr6:107078600-107088200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:107078600-107089000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:107078600-107089000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:107078600-107089400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:107078600-107089600	Weak transcription	Fetal Intestine Small	intestine
11	chr6:107078600-107089800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr6:107078600-107090000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:107078600-107090000	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:107078600-107090000	Weak transcription	Fetal Stomach	stomach
15	chr6:107078600-107090000	Weak transcription	Right Ventricle	heart
16	chr6:107078600-107090200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:107078600-107090200	Weak transcription	Fetal Intestine Large	intestine
18	chr6:107078600-107090200	Weak transcription	Fetal Lung	lung
19	chr6:107078600-107090200	Weak transcription	Ovary	ovary
20	chr6:107078600-107090400	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:107078600-107090400	Weak transcription	Esophagus	oesophagus
22	chr6:107078600-107090400	Weak transcription	Gastric	stomach
23	chr6:107078600-107090400	Weak transcription	HSMM	muscle
24	chr6:107078600-107090600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:107078600-107090600	Weak transcription	Fetal Brain Female	brain
26	chr6:107078600-107092000	Weak transcription	Brain Germinal Matrix	brain
27	chr6:107078600-107092600	Weak transcription	Brain Anterior Caudate	brain
28	chr6:107078600-107093000	Weak transcription	Colonic Mucosa	Colon
29	chr6:107078600-107100200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:107078600-107100400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr6:107078600-107103800	Weak transcription	Fetal Brain Male	brain
32	chr6:107078600-107104200	Weak transcription	Brain Angular Gyrus	brain
33	chr6:107078600-107106200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr6:107078600-107106600	Weak transcription	NH-A	brain
35	chr6:107078600-107110200	Weak transcription	NHLF	lung
36	chr6:107078600-107110800	Weak transcription	Fetal Heart	heart
37	chr6:107078600-107115200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:107078600-107125200	Weak transcription	Stomach Mucosa	stomach
39	chr6:107078800-107087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:107078800-107088000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:107078800-107088200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:107078800-107089000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:107078800-107089400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:107078800-107090200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:107078800-107090400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:107078800-107090600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:107078800-107090600	Weak transcription	Hela-S3	cervix
48	chr6:107078800-107092000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:107078800-107093600	Weak transcription	NHEK	skin
50	chr6:107079400-107091000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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