Variant report

Variant	rs903517
Chromosome Location	chr6:74181622-74181623
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	TBL1XR1	chr6:74181561-74182120	GM12878	blood:	n/a	n/a
2	YY1	chr6:74181506-74181823	GM12878	blood:	n/a	chr6:74181702-74181712
3	SPI1	chr6:74181555-74182001	GM12891	blood:	n/a	n/a
4	ATF2	chr6:74181551-74182110	GM12878	blood:	n/a	n/a
5	FOXM1	chr6:74181525-74182054	GM12878	blood:	n/a	n/a
6	SPI1	chr6:74181436-74182311	GM12878	blood:	n/a	n/a
7	MXI1	chr6:74181620-74182191	GM12878	blood:	n/a	n/a
8	BCLAF1	chr6:74181573-74182080	GM12878	blood:	n/a	chr6:74181770-74181779
9	EP300	chr6:74181594-74181970	GM12878	blood:	n/a	chr6:74181770-74181784 chr6:74181789-74181803
10	YY1	chr6:74181492-74181846	GM12892	blood:	n/a	chr6:74181702-74181712
11	IRF4	chr6:74181513-74181947	GM12878	blood:	n/a	n/a
12	SPI1	chr6:74181535-74181990	GM12891	blood:	n/a	n/a
13	IRF4	chr6:74181503-74181997	GM12878	blood:	n/a	n/a
14	EP300	chr6:74181618-74182028	GM12878	blood:	n/a	chr6:74181770-74181784 chr6:74181789-74181803
15	NFIC	chr6:74181334-74182141	GM12878	blood:	n/a	n/a
16	NFIC	chr6:74181376-74182105	GM12878	blood:	n/a	n/a
17	RUNX3	chr6:74181356-74181956	GM12878	blood:	n/a	n/a
18	CUX1	chr6:74181577-74182103	GM12878	blood:	n/a	n/a
19	RCOR1	chr6:74181527-74182043	GM12878	blood:	n/a	n/a
20	CHD2	chr6:74181577-74181968	GM12878	blood:	n/a	n/a
21	BCL11A	chr6:74181619-74181989	GM12878	blood:	n/a	chr6:74181770-74181779

No.	Distal block	Cell Line	Cell type
1	chr6:74180943..74183846-chr6:75992415..75994208,2	K562	blood:
2	6:74000304-74012200..6:74160392-74184826	K562	blood:
3	chr6:74181613..74183690-chr6:74190561..74192135,2	K562	blood:

Variant related genes	Relation type
MTO1	TF binding region
ENSG00000135297	Chromatin interaction
ENSG00000112697	Chromatin interaction
ENSG00000234882	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10223454	1.00[YRI][hapmap]
rs12191652	0.86[ASN][1000 genomes]
rs12192004	0.86[ASN][1000 genomes]
rs12198919	0.86[ASN][1000 genomes]
rs16883805	0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs4706539	0.90[AMR][1000 genomes]
rs59796880	0.82[ASN][1000 genomes]
rs60070262	0.88[ASN][1000 genomes]
rs6453674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453675	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453678	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6902599	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6917928	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7761170	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7763873	0.90[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs7768980	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs903516	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9442912	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap]
rs9442913	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9442914	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9442915	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9442917	0.91[CHB][hapmap];0.92[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9446909	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9446914	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9446915	0.86[AFR][1000 genomes]
rs9446916	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9446918	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9446920	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
4	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74172200-74189600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:74172200-74189600	Weak transcription	Stomach Mucosa	stomach
3	chr6:74172200-74197200	Weak transcription	Fetal Heart	heart
4	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:74172400-74183000	Weak transcription	Aorta	Aorta
6	chr6:74172400-74183400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:74172800-74183000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:74172800-74183000	Weak transcription	A549	lung
9	chr6:74172800-74183200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:74173000-74183000	Weak transcription	Psoas Muscle	Psoas
11	chr6:74173000-74183200	Weak transcription	Colonic Mucosa	Colon
12	chr6:74173200-74182800	Weak transcription	Right Ventricle	heart
13	chr6:74173400-74199000	Strong transcription	Fetal Thymus	thymus
14	chr6:74173600-74198800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:74173800-74181800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:74173800-74181800	Strong transcription	Fetal Muscle Leg	muscle
17	chr6:74173800-74182200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:74173800-74198800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:74173800-74206200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:74174000-74187600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:74174000-74193600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:74174200-74182600	Weak transcription	Small Intestine	intestine
23	chr6:74175200-74198800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:74175200-74199200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr6:74175400-74199000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr6:74175600-74188400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:74175600-74198600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:74175600-74199000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:74175600-74199000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:74175800-74184400	Strong transcription	Osteobl	bone
31	chr6:74175800-74188400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:74175800-74196800	Strong transcription	Liver	Liver
33	chr6:74175800-74197400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:74175800-74198000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:74175800-74198800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:74175800-74198800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:74175800-74198800	Strong transcription	Placenta	Placenta
38	chr6:74175800-74199000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr6:74175800-74199200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:74175800-74201000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:74176000-74181800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:74176000-74181800	Strong transcription	Brain Cingulate Gyrus	brain
43	chr6:74176000-74187400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr6:74176000-74187800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:74176000-74188200	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr6:74176000-74192200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:74176000-74192200	Strong transcription	Fetal Lung	lung
48	chr6:74176000-74198800	Strong transcription	Brain Anterior Caudate	brain
49	chr6:74176000-74198800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr6:74176000-74198800	Strong transcription	Fetal Intestine Large	intestine

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