Variant report

Variant	rs508375
Chromosome Location	chr11:64848952-64848953
allele	C/G
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	chr11:64848695-64849369	GM12878	blood:	n/a	chr11:64848952-64848965 chr11:64848953-64848962 chr11:64848951-64848964
2	SPI1	chr11:64848864-64849061	K562	blood:	n/a	chr11:64848952-64848965 chr11:64848953-64848962 chr11:64848951-64848964
3	RUNX3	chr11:64848834-64849086	GM12878	blood:	n/a	n/a
4	SPI1	chr11:64848833-64849107	GM12891	blood:	n/a	chr11:64848952-64848965 chr11:64848953-64848962 chr11:64848951-64848964
5	SPI1	chr11:64848745-64849150	GM12891	blood:	n/a	chr11:64848952-64848965 chr11:64848953-64848962 chr11:64848951-64848964
6	SPI1	chr11:64848861-64849198	HL-60	blood:	n/a	chr11:64848952-64848965 chr11:64848953-64848962 chr11:64848951-64848964
7	SPI1	chr11:64848758-64849103	GM12878	blood:	n/a	chr11:64848952-64848965 chr11:64848953-64848962 chr11:64848951-64848964
8	POLR2A	chr11:64848446-64848967	HepG2	liver:	n/a	n/a
9	SPI1	chr11:64848854-64849070	K562	blood:	n/a	chr11:64848952-64848965 chr11:64848953-64848962 chr11:64848951-64848964
10	SPI1	chr11:64848874-64849052	GM12878	blood:	n/a	chr11:64848952-64848965 chr11:64848953-64848962 chr11:64848951-64848964
11	SPI1	chr11:64848841-64849301	HL-60	blood:	n/a	chr11:64848952-64848965 chr11:64848953-64848962 chr11:64848951-64848964
12	POLR2A	chr11:64848895-64849100	K562	blood:	n/a	n/a
13	ZNF384	chr11:64848829-64849029	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64840029..64841661-chr11:64848924..64850490,2	MCF-7	breast:
2	chr11:64807534..64810713-chr11:64846257..64849828,3	MCF-7	breast:
3	chr11:64804287..64805920-chr11:64848150..64849718,2	K562	blood:
4	chr11:64644462..64647222-chr11:64847025..64851524,4	MCF-7	breast:
5	chr11:64643788..64647961-chr11:64848883..64851896,4	K562	blood:

Variant related genes	Relation type
ZFPL1	TF binding region
CDCA5	TF binding region
ENSG00000168061	Chromatin interaction
ENSG00000110047	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10088	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs1149569	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1149570	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1195958	0.82[CEU][hapmap];0.90[MEX][hapmap]
rs1195959	0.82[CEU][hapmap];0.90[MEX][hapmap]
rs1195975	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1195976	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1195977	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1195978	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1196047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196049	1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1196051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1209621	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1211975	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1300836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546532	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2370165	0.92[ASN][1000 genomes]
rs2670910	0.94[GIH][hapmap]
rs3819049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3850948	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3896078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491465	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930699	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs495820	0.94[GIH][hapmap]
rs495935	0.94[GIH][hapmap]
rs500464	0.90[GIH][hapmap]
rs527039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs531178	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542175	0.94[GIH][hapmap]
rs550771	0.94[GIH][hapmap]
rs584698	0.93[GIH][hapmap]
rs664118	0.94[GIH][hapmap]
rs7939766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs907629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64822400-64850800	Weak transcription	Esophagus	oesophagus
2	chr11:64834200-64850600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:64837800-64850800	Weak transcription	Pancreas	Pancrea
4	chr11:64840200-64850800	Weak transcription	Spleen	Spleen
5	chr11:64842800-64850200	Weak transcription	Fetal Lung	lung
6	chr11:64843000-64849800	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr11:64843000-64849800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:64843000-64849800	Strong transcription	Thymus	Thymus
9	chr11:64843000-64850000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:64843000-64850200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:64843000-64850200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:64843200-64849200	Strong transcription	Fetal Muscle Leg	muscle
13	chr11:64843200-64849400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:64843200-64849600	Strong transcription	Fetal Stomach	stomach
15	chr11:64843200-64849800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:64843200-64849800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:64843200-64850200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:64843400-64849800	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr11:64843400-64849800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:64843400-64850000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:64843400-64850200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:64843600-64850600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:64844000-64849200	Strong transcription	NHLF	lung
24	chr11:64844000-64849600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:64844000-64850200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:64844800-64850200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:64845000-64849000	Genic enhancers	Dnd41	blood
28	chr11:64845000-64849600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:64845200-64850800	Weak transcription	Colonic Mucosa	Colon
30	chr11:64845400-64850600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:64845600-64850200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:64845800-64849200	Strong transcription	NHDF-Ad	bronchial
33	chr11:64846000-64849200	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr11:64846000-64850200	Weak transcription	Fetal Heart	heart
35	chr11:64846000-64850800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:64846000-64850800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:64846200-64849000	Strong transcription	HepG2	liver
38	chr11:64846200-64850400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:64846200-64850600	Weak transcription	Primary B cells from cord blood	blood
40	chr11:64846200-64850800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:64846200-64850800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:64846200-64850800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:64846200-64850800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:64846200-64851000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:64846200-64851000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:64846400-64850000	Strong transcription	Fetal Intestine Small	intestine
47	chr11:64846400-64850200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:64846400-64850200	Weak transcription	Fetal Kidney	kidney
49	chr11:64846400-64850600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr11:64846400-64850800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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