Variant report

Variant	rs7526647
Chromosome Location	chr1:159907367-159907368
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	POLR2A	chr1:159907304-159907406	MCF-7	breast:	n/a	n/a
2	SIN3A	chr1:159907266-159907517	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOXA1	chr1:159907162-159907489	T-47D	breast:	n/a	n/a
4	SPI1	chr1:159907154-159907604	HL-60	blood:	n/a	chr1:159907393-159907406 chr1:159907433-159907446 chr1:159907393-159907406
5	SPI1	chr1:159907184-159907564	GM12891	blood:	n/a	chr1:159907393-159907406 chr1:159907433-159907446 chr1:159907393-159907406
6	CTCF	chr1:159905822-159907417	A549	lung:	n/a	chr1:159906373-159906391 chr1:159906375-159906396 chr1:159906782-159906795 chr1:159906376-159906389
7	ZNF263	chr1:159906081-159907764	HEK293-T-REx	kidney:	n/a	chr1:159906311-159906332 chr1:159907429-159907438 chr1:159907432-159907441 chr1:159907632-159907641
8	ZNF143	chr1:159907202-159907488	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:159905804..159907372-chr1:159975809..159978372,14	K562	blood:
2	chr1:159899215..159903293-chr1:159903611..159908278,6	MCF-7	breast:
3	chr1:159905881..159908106-chr1:159914629..159916330,2	K562	blood:
4	chr1:159905858..159907712-chr1:159975951..159977726,16	MCF-7	breast:
5	chr1:159905137..159907886-chr1:159939775..159941971,2	MCF-7	breast:
6	chr1:159907114..159907638-chr1:159915297..159915828,2	MCF-7	breast:
7	chr1:159907235..159909524-chr1:159933511..159935771,2	MCF-7	breast:
8	chr1:159906727..159908375-chr1:160047369..160050098,2	MCF-7	breast:
9	chr1:159906196..159907844-chr1:159918689..159920496,2	K562	blood:
10	chr1:159749685..159752057-chr1:159906275..159908264,2	MCF-7	breast:

Variant related genes	Relation type
IGSF9	TF binding region
ENSG00000158716	Chromatin interaction
ENSG00000085552	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10752634	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10797054	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10797055	0.95[ASN][1000 genomes]
rs10908750	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12139175	0.91[ASN][1000 genomes]
rs1320566	0.91[ASN][1000 genomes]
rs1934075	0.82[EUR][1000 genomes]
rs6658042	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6703466	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7524321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv872489	chr1:159844819-159940000	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv464150	chr1:159860917-159908393	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv548052	chr1:159860917-159908393	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv548053	chr1:159885500-159908393	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	nsv524006	chr1:159886422-159923111	Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv516637	chr1:159889686-159908393	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	62 gene(s)	inside rSNPs	diseases
8	nsv548054	chr1:159895979-159907441	Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159896600-159908600	Weak transcription	Fetal Kidney	kidney
2	chr1:159903600-159908200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:159905400-159908400	Enhancers	Primary B cells from cord blood	blood
4	chr1:159905400-159908600	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:159905400-159909600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:159905400-159909800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:159905600-159908400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:159905800-159907400	Enhancers	A549	lung
9	chr1:159905800-159908200	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:159905800-159908200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:159905800-159908400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:159905800-159908600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:159905800-159908600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr1:159905800-159911400	Enhancers	Placenta	Placenta
15	chr1:159905800-159913600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:159906000-159907400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:159906000-159907400	Enhancers	Fetal Muscle Leg	muscle
18	chr1:159906000-159907400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:159906000-159907400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr1:159906000-159907600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr1:159906000-159907600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr1:159906000-159907600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:159906000-159907600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:159906000-159907600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr1:159906000-159907600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr1:159906000-159907800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:159906000-159907800	Enhancers	Lung	lung
28	chr1:159906000-159907800	Enhancers	Spleen	Spleen
29	chr1:159906000-159908400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:159906000-159908600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:159906000-159908600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:159906000-159908600	Enhancers	Fetal Thymus	thymus
33	chr1:159906000-159909000	Enhancers	Liver	Liver
34	chr1:159906000-159909000	Enhancers	Esophagus	oesophagus
35	chr1:159906000-159909000	Enhancers	HMEC	breast
36	chr1:159906000-159909400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr1:159906000-159910600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr1:159906000-159911000	Weak transcription	Brain Germinal Matrix	brain
39	chr1:159906200-159908400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:159906200-159908600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:159906200-159908600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr1:159906400-159907400	Enhancers	Primary T cells from cord blood	blood
43	chr1:159906400-159907400	Enhancers	Fetal Brain Male	brain
44	chr1:159906400-159907400	Enhancers	Thymus	Thymus
45	chr1:159906400-159907600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:159906400-159907600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:159906400-159907600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:159906400-159907600	Enhancers	Fetal Lung	lung
49	chr1:159906400-159907800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:159906400-159908200	Enhancers	H1 Cell Line	embryonic stem cell

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