Variant report

Variant	rs947753
Chromosome Location	chr6:74000604-74000605
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:74000558-74000714	Hela-S3	cervix:	n/a	n/a
2	FOS	chr6:74000176-74000617	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr6:74000202-74000996	SK-N-MC	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:73927031-73938730..6:74000304-74012200	K562	blood:
2	6:74000304-74012200..6:74062967-74076046	GM12878	blood:
3	6:74000304-74012200..6:74160392-74184826	K562	blood:
4	6:74000304-74012200..6:74078047-74099067	H1-hESC	embryonic stem cell:	embryo
5	6:74000304-74012200..6:74099986-74112890	H1-hESC	embryonic stem cell:	embryo

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf221-2	chr6:74000256-74000889	NONHSAT113540
2	lnc-C6orf221-2	chr6:74000256-74001137	NONHSAT113543
3	lnc-C6orf221-2	chr6:74000126-74000985	NONHSAT113549
4	lnc-C6orf221-2	chr6:74000256-74001426	NONHSAT113548

No data

Variant related genes	Relation type
EIF3EP1	TF binding region
ENSG00000203909	Chromatin interaction
ENSG00000164430	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000207023	Chromatin interaction
ENSG00000256980	Chromatin interaction
ENSG00000224221	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000231332	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000203908	Chromatin interaction
ENSG00000235174	Chromatin interaction
ENSG00000135297	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs13197259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13197436	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13209676	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13211102	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13217787	0.86[EUR][1000 genomes]
rs16883538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883559	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16883561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054042	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2054043	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2124003	0.84[CEU][hapmap]
rs2603472	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2603474	0.86[ASN][1000 genomes]
rs2984126	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2984128	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34602913	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34826679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34926279	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34977156	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35227086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35705185	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35806061	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35830226	0.86[EUR][1000 genomes]
rs35879937	0.95[EUR][1000 genomes]
rs35892768	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36044937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36049164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36114303	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3734511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6915288	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71573587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71573588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71573589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71573590	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71573591	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7752970	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7753960	0.83[CEU][hapmap]
rs7754533	0.84[CEU][hapmap]
rs7758669	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7769905	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv970143	chr6:73998606-74001817	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73973600-74018600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:73973600-74018600	Weak transcription	A549	lung
3	chr6:73973600-74018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:73974000-74009000	Weak transcription	HSMM	muscle
5	chr6:73974000-74018400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:73974400-74008800	Weak transcription	NH-A	brain
7	chr6:73974400-74009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:73974600-74008600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:73974800-74008600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:73977400-74008800	Weak transcription	Fetal Brain Male	brain
11	chr6:73979200-74004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:73983800-74018600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:73984400-74018600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:73984600-74002200	Weak transcription	Primary T cells from cord blood	blood
15	chr6:73984800-74000800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:73984800-74004400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:73984800-74008600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:73985200-74004600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:73985200-74008800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:73985400-74009000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:73985600-74004800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:73985600-74008800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:73985600-74008800	Weak transcription	Thymus	Thymus
24	chr6:73985800-74006800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:73985800-74008800	Weak transcription	Ovary	ovary
26	chr6:73986400-74008600	Weak transcription	Fetal Brain Female	brain
27	chr6:73989000-74017200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:73989800-74008800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:73990000-74003800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:73991000-74000800	Weak transcription	Fetal Thymus	thymus
31	chr6:73991600-74002600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:73992400-74013200	Weak transcription	GM12878-XiMat	blood
33	chr6:73994200-74018600	Weak transcription	Stomach Mucosa	stomach
34	chr6:73995200-74002800	Strong transcription	Dnd41	blood
35	chr6:73996000-74008600	Weak transcription	Fetal Heart	heart
36	chr6:73996000-74008600	Weak transcription	Fetal Kidney	kidney
37	chr6:73996000-74009800	Weak transcription	K562	blood
38	chr6:73996000-74015800	Weak transcription	Hela-S3	cervix
39	chr6:73998200-74004800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:73999000-74008600	Weak transcription	Brain Substantia Nigra	brain
41	chr6:74000000-74001000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:74000000-74001000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:74000000-74001200	Enhancers	HUVEC	blood vessel
44	chr6:74000000-74002600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:74000200-74001000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:74000200-74001800	Strong transcription	Fetal Stomach	stomach
47	chr6:74000200-74002000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:74000200-74002600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:74000400-74000800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:74000400-74000800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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