Variant report

Variant	rs1635518
Chromosome Location	chr1:242010574-242010575
allele	A/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	PML	chr1:242010489-242012015	K562	blood:	n/a	n/a
2	ZMIZ1	chr1:242010273-242012107	K562	blood:	n/a	n/a
3	ZC3H11A	chr1:242009776-242011545	K562	blood:	n/a	n/a
4	RCOR1	chr1:242010075-242012914	K562	blood:	n/a	n/a
5	BACH1	chr1:242010553-242011829	K562	blood:	n/a	n/a
6	IRF1	chr1:242009937-242012536	K562	blood:	n/a	chr1:242011465-242011479 chr1:242011421-242011435
7	POLR2A	chr1:242010099-242012264	K562	blood:	n/a	n/a
8	E2F6	chr1:242009991-242012325	K562	blood:	n/a	chr1:242011510-242011517 chr1:242011510-242011517 chr1:242011510-242011518 chr1:242011509-242011519 chr1:242011510-242011517 chr1:242011484-242011498 chr1:242011450-242011459 chr1:242011452-242011461 chr1:242011509-242011520 chr1:242011510-242011521 chr1:242011510-242011518
9	STAT5A	chr1:242010513-242012131	K562	blood:	n/a	chr1:242011749-242011758 chr1:242011748-242011757
10	MXI1	chr1:242010563-242013411	SK-N-SH	brain:	n/a	n/a
11	CUX1	chr1:242009983-242013139	K562	blood:	n/a	n/a
12	POLR2A	chr1:242010407-242012518	K562	blood:	n/a	n/a
13	ZNF143	chr1:242010050-242011903	K562	blood:	n/a	chr1:242011210-242011228
14	POLR2A	chr1:242010551-242012103	K562	blood:	n/a	n/a
15	NR2F2	chr1:242010214-242012402	K562	blood:	n/a	n/a
16	HEY1	chr1:242010566-242012257	K562	blood:	n/a	chr1:242011452-242011461
17	MAZ	chr1:242010035-242012545	K562	blood:	n/a	n/a
18	HEY1	chr1:242010503-242011911	K562	blood:	n/a	chr1:242011452-242011461
19	POLR2A	chr1:242010545-242012198	K562	blood:	n/a	n/a
20	MAX	chr1:242010175-242012311	K562	blood:	n/a	n/a
21	POLR2A	chr1:242010536-242012377	H1-hESC	embryonic stem cell:	n/a	n/a
22	IRF1	chr1:242010158-242012313	K562	blood:	n/a	chr1:242011465-242011479 chr1:242011421-242011435
23	MXI1	chr1:242010493-242012416	IMR90	lung:	n/a	n/a
24	JUND	chr1:242009855-242012643	K562	blood:	n/a	chr1:242010675-242010684
25	CHD2	chr1:242009977-242010718	K562	blood:	n/a	n/a
26	JUN	chr1:242010286-242011697	K562	blood:	n/a	chr1:242010675-242010684
27	POLR2A	chr1:242010335-242013165	GM12891	blood:	n/a	n/a
28	ARID3A	chr1:242010326-242012219	K562	blood:	n/a	n/a
29	POLR2A	chr1:242010107-242012967	PBDE	blood:	n/a	n/a
30	CREB1	chr1:242010409-242012447	K562	blood:	n/a	chr1:242011449-242011462
31	CEBPB	chr1:242010559-242011876	K562	blood:	n/a	n/a
32	CTCF	chr1:242009987-242011364	K562	blood:	n/a	n/a
33	SREBP1	chr1:242010210-242011757	GM12878	blood:	n/a	n/a
34	MAFF	chr1:242009918-242011605	K562	blood:	n/a	n/a
35	E2F4	chr1:242010567-242013180	MCF10A-Er-Src	breast:	n/a	chr1:242011510-242011517 chr1:242011508-242011519 chr1:242011510-242011517 chr1:242011510-242011518 chr1:242011509-242011519 chr1:242011510-242011517 chr1:242011484-242011498 chr1:242011450-242011459 chr1:242011452-242011461 chr1:242011509-242011520 chr1:242011510-242011521 chr1:242011510-242011518
36	MYC	chr1:242009766-242012341	K562	blood:	n/a	n/a
37	CBX3	chr1:242009636-242012532	K562	blood:	n/a	n/a
38	POLR2A	chr1:242010531-242012942	Hela-S3	cervix:	n/a	n/a
39	EP300	chr1:242010506-242011695	GM12878	blood:	n/a	chr1:242010605-242010619
40	TRIM28	chr1:242010536-242012207	K562	blood:	n/a	n/a
41	TBL1XR1	chr1:242009598-242012005	K562	blood:	n/a	n/a
42	MXI1	chr1:242010102-242012168	K562	blood:	n/a	n/a
43	ATF1	chr1:242010197-242012251	K562	blood:	n/a	n/a
44	MAX	chr1:242010401-242012288	NB4	blood:	n/a	n/a
45	POLR2A	chr1:242010063-242012428	K562	blood:	n/a	n/a
46	STAT5A	chr1:242010450-242010876	K562	blood:	n/a	n/a
47	POLR2A	chr1:242010342-242012109	K562	blood:	n/a	n/a
48	TBP	chr1:242010254-242012925	K562	blood:	n/a	n/a
49	EP300	chr1:242010412-242012800	K562	blood:	n/a	chr1:242012590-242012604 chr1:242010605-242010619
50	POLR2A	chr1:242010299-242013215	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:241680902..241684541-chr1:242009942..242012706,4	K562	blood:
2	chr1:241802102..241804539-chr1:242008535..242011145,2	MCF-7	breast:
3	chr1:241799658..241805161-chr1:242010004..242013743,14	K562	blood:
4	chr1:241798094..241801033-chr1:242010173..242012572,2	MCF-7	breast:
5	chr1:241696697..241699128-chr1:242009298..242010956,2	MCF-7	breast:
6	chr1:241994931..241996990-chr1:242009652..242011355,2	K562	blood:
7	chr1:241692902..241697485-chr1:242010276..242014432,6	K562	blood:
8	chr1:241693547..241697485-chr1:242010276..242012986,4	K562	blood:
9	chr1:242009986..242012755-chr1:245025033..245026742,2	K562	blood:
10	chr1:241801176..241804000-chr1:242008190..242010592,3	MCF-7	breast:
11	chr1:241796724..241805103-chr1:242008052..242013159,15	K562	blood:

Variant related genes	Relation type
EXO1	TF binding region
ENSG00000203668	Chromatin interaction
ENSG00000229022	Chromatin interaction
ENSG00000091483	Chromatin interaction
ENSG00000054277	Chromatin interaction
ENSG00000153187	Chromatin interaction
ENSG00000117009	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10802996	0.80[CHD][hapmap]
rs1635510	0.85[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1635514	0.84[ASN][1000 genomes]
rs1776130	0.83[ASN][1000 genomes]
rs1776138	0.83[ASN][1000 genomes]
rs1776139	0.90[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs1776140	0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1776141	0.82[ASN][1000 genomes]
rs1776146	0.85[CHB][hapmap];0.84[CHD][hapmap]
rs1776158	0.87[ASN][1000 genomes]
rs1776159	0.84[ASN][1000 genomes]
rs1776174	0.81[ASN][1000 genomes]
rs1776176	0.86[ASN][1000 genomes]
rs1776177	0.90[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.90[ASN][1000 genomes]
rs1776181	0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.89[ASN][1000 genomes]
rs2526698	0.85[CHB][hapmap];0.80[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2526702	0.84[ASN][1000 genomes]
rs2797600	0.82[ASN][1000 genomes]
rs2797601	0.82[ASN][1000 genomes]
rs2797602	0.82[ASN][1000 genomes]
rs2797603	0.82[ASN][1000 genomes]
rs3121389	0.86[ASN][1000 genomes]
rs851781	0.85[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv528015	chr1:241865219-242070731	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv2762521	chr1:241891040-242074222	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv873373	chr1:241939069-242027500	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv873374	chr1:241975147-242097624	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242001800-242010600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:242001800-242010800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:242006000-242010600	Weak transcription	NHLF	lung
4	chr1:242006000-242010800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:242006200-242010600	Weak transcription	Fetal Heart	heart
6	chr1:242006400-242010600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:242006400-242010600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:242006400-242010600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:242006400-242010600	Weak transcription	HSMM	muscle
10	chr1:242006400-242010600	Weak transcription	NHDF-Ad	bronchial
11	chr1:242006400-242010600	Weak transcription	Osteobl	bone
12	chr1:242006400-242010800	Weak transcription	HSMMtube	muscle
13	chr1:242006600-242010600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:242006600-242010600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:242008200-242010800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:242008800-242011000	Weak transcription	Pancreas	Pancrea
17	chr1:242010000-242011000	Flanking Active TSS	K562	blood
18	chr1:242010200-242010600	Enhancers	Hela-S3	cervix
19	chr1:242010200-242011000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:242010200-242011000	Flanking Active TSS	Dnd41	blood
21	chr1:242010400-242010600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:242010400-242010600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:242010400-242010600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:242010400-242010600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:242010400-242010600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:242010400-242010600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:242010400-242010600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:242010400-242010600	Enhancers	Brain Hippocampus Middle	brain
29	chr1:242010400-242010600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr1:242010400-242010600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:242010400-242010600	Enhancers	A549	lung
32	chr1:242010400-242010600	Enhancers	GM12878-XiMat	blood
33	chr1:242010400-242010600	Enhancers	NHEK	skin
34	chr1:242010400-242010800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:242010400-242010800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr1:242010400-242010800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:242010400-242010800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr1:242010400-242010800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr1:242010400-242011200	Flanking Active TSS	HMEC	breast
40	chr1:242010400-242011600	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr1:242010400-242011800	Active TSS	Fetal Kidney	kidney

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