Variant report

Variant	rs1934075
Chromosome Location	chr1:159895979-159895980
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	chr1:159892253-159896642	MCF10A-Er-Src	breast:	n/a	n/a
2	BHLHE40	chr1:159892817-159896190	K562	blood:	n/a	chr1:159894517-159894533 chr1:159894378-159894394
3	POLR2A	chr1:159887120-159896155	GM12878	blood:	n/a	n/a
4	SMARCB1	chr1:159892331-159896105	Hela-S3	cervix:	n/a	chr1:159894426-159894435 chr1:159894427-159894436
5	POLR2A	chr1:159892512-159896295	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:159893431-159896152	HepG2	liver:	n/a	n/a
7	SMARCC1	chr1:159892553-159896281	Hela-S3	cervix:	n/a	chr1:159894426-159894435 chr1:159894427-159894436
8	POLR2A	chr1:159891108-159896034	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:159887207-159896087	Hela-S3	cervix:	n/a	n/a
10	TCF7L2	chr1:159892650-159896044	Hela-S3	cervix:	n/a	chr1:159895165-159895174 chr1:159895845-159895854 chr1:159894426-159894435 chr1:159894427-159894436 chr1:159895842-159895856 chr1:159894160-159894169
11	POLR2A	chr1:159891068-159896259	K562	blood:	n/a	n/a
12	POLR2A	chr1:159892342-159895980	Hela-S3	cervix:	n/a	n/a
13	TFAP2A	chr1:159894096-159896084	Hela-S3	cervix:	n/a	chr1:159894484-159894499 chr1:159895777-159895792 chr1:159894600-159894608 chr1:159894427-159894436 chr1:159894600-159894608 chr1:159894600-159894608 chr1:159894426-159894435
14	HMGN3	chr1:159895940-159896322	K562	blood:	n/a	n/a
15	POLR2A	chr1:159892652-159896579	MCF10A-Er-Src	breast:	n/a	n/a
16	MAZ	chr1:159891646-159896166	K562	blood:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159892136-159892146 chr1:159893593-159893602
17	MAZ	chr1:159890974-159895993	GM12878	blood:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159892136-159892146 chr1:159893593-159893602
18	MXI1	chr1:159893257-159896034	SK-N-SH	brain:	n/a	chr1:159893593-159893608 chr1:159895721-159895730
19	TFAP2C	chr1:159892397-159896105	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:159891193-159896946	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr1:159892214-159895998	Hela-S3	cervix:	n/a	n/a
22	MAX	chr1:159893973-159896007	HCT-116	colon:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159894806-159894816
23	POLR2A	chr1:159891635-159896280	K562	blood:	n/a	n/a
24	CHD1	chr1:159890529-159896283	IMR90	lung:	n/a	chr1:159895384-159895391 chr1:159894935-159894945 chr1:159894333-159894343
25	POLR2A	chr1:159891006-159897146	IMR90	lung:	n/a	n/a
26	GTF2F1	chr1:159894130-159896453	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:159894986-159896370	SK-N-MC	brain:	n/a	n/a
28	E2F4	chr1:159893093-159895995	K562	blood:	n/a	chr1:159894377-159894387 chr1:159894842-159894849 chr1:159894837-159894852 chr1:159893160-159893169 chr1:159894380-159894390 chr1:159893161-159893168 chr1:159893161-159893168 chr1:159893947-159893958 chr1:159894842-159894849 chr1:159893161-159893168 chr1:159894842-159894849 chr1:159895384-159895391
29	POLR2A	chr1:159892490-159896042	ECC-1	luminal epithelium:	n/a	n/a
30	JUN	chr1:159891636-159896116	K562	blood:	n/a	chr1:159894426-159894436 chr1:159894427-159894436 chr1:159894622-159894633 chr1:159893456-159893465 chr1:159894457-159894467 chr1:159894425-159894437 chr1:159894383-159894392 chr1:159894426-159894435
31	ZNF143	chr1:159894024-159896086	Hela-S3	cervix:	n/a	chr1:159894618-159894636 chr1:159894050-159894068
32	HCFC1	chr1:159895957-159896133	K562	blood:	n/a	n/a
33	POLR2A	chr1:159895965-159895995	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZNF263	chr1:159892571-159896313	HEK293-T-REx	kidney:	n/a	chr1:159893567-159893576 chr1:159894108-159894117
35	MAX	chr1:159892488-159895982	A549	lung:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159893593-159893602 chr1:159894806-159894816
36	POLR2A	chr1:159892810-159896339	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr1:159892920-159896207	Raji	blood:	n/a	n/a
38	MAZ	chr1:159891364-159896134	IMR90	lung:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159892136-159892146 chr1:159893593-159893602
39	POLR2A	chr1:159887143-159896607	A549	lung:	n/a	n/a
40	ZMIZ1	chr1:159892772-159896050	K562	blood:	n/a	n/a
41	MAFK	chr1:159894098-159896324	Hela-S3	cervix:	n/a	chr1:159894947-159894961 chr1:159894946-159894962

No.	Distal block	Cell Line	Cell type
1	chr1:159867714..159872753-chr1:159888238..159897653,26	MCF-7	breast:
2	chr1:159749281..159752098-chr1:159893129..159896069,5	K562	blood:
3	chr1:159893111..159896488-chr1:159998687..160003248,7	K562	blood:
4	chr1:159847755..159854345-chr1:159891168..159896645,10	K562	blood:
5	chr1:159893029..159897081-chr1:159913897..159916842,4	K562	blood:
6	chr1:159895030..159897330-chr1:160336317..160337995,2	K562	blood:
7	chr1:159894132..159896296-chr1:159999547..160002984,5	MCF-7	breast:
8	chr1:159893160..159896013-chr1:159998687..160002658,4	K562	blood:
9	chr1:159895581..159897596-chr1:159914205..159917814,3	K562	blood:
10	chr1:159893567..159896564-chr1:160230805..160232399,2	K562	blood:
11	chr1:159892760..159896965-chr1:159922291..159925141,4	K562	blood:
12	chr1:159749654..159753650-chr1:159893129..159897064,5	K562	blood:
13	chr1:159895690..159897538-chr1:159952889..159955183,2	MCF-7	breast:
14	chr1:159849524..159855838-chr1:159893211..159898295,8	MCF-7	breast:

Variant related genes	Relation type
TAGLN2	TF binding region
ENSG00000085552	Chromatin interaction
ENSG00000228606	Chromatin interaction
ENSG00000158716	Chromatin interaction
ENSG00000132716	Chromatin interaction
ENSG00000162723	Chromatin interaction
ENSG00000213085	Chromatin interaction
ENSG00000171786	Chromatin interaction
ENSG00000143315	Chromatin interaction
ENSG00000266458	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10752633	0.85[CEU][hapmap]
rs10752634	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs10797054	0.81[CEU][hapmap];0.83[AMR][1000 genomes]
rs10908750	0.81[CEU][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes]
rs12139175	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1320566	0.88[CEU][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1934074	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6658042	0.82[EUR][1000 genomes]
rs6703466	0.83[MEX][hapmap];0.82[EUR][1000 genomes]
rs7513326	0.81[JPT][hapmap]
rs7524321	0.82[EUR][1000 genomes]
rs7526647	0.82[EUR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159891800-159896000	Flanking Active TSS	Placenta	Placenta
2	chr1:159892000-159896000	Flanking Active TSS	Fetal Muscle Trunk	muscle
3	chr1:159892200-159896000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:159892400-159896000	Flanking Active TSS	Dnd41	blood
5	chr1:159893200-159896000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:159893200-159896000	Active TSS	Left Ventricle	heart
7	chr1:159893400-159896000	Active TSS	Ovary	ovary
8	chr1:159893400-159896000	Active TSS	Right Atrium	heart
9	chr1:159893800-159896000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:159894000-159896000	Active TSS	Fetal Kidney	kidney
11	chr1:159894600-159896000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:159894600-159896200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr1:159894800-159896000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
14	chr1:159894800-159896000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
15	chr1:159894800-159896200	Active TSS	Psoas Muscle	Psoas
16	chr1:159895000-159896000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:159895200-159896000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:159895200-159896200	Flanking Active TSS	HMEC	breast
19	chr1:159895400-159896000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr1:159895400-159896000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr1:159895400-159896000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:159895400-159896000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr1:159895400-159896000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:159895400-159896000	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr1:159895400-159896000	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr1:159895400-159896000	Active TSS	Fetal Brain Female	brain
27	chr1:159895400-159896000	Flanking Active TSS	Fetal Thymus	thymus
28	chr1:159895400-159896000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:159895400-159896000	Flanking Active TSS	GM12878-XiMat	blood
30	chr1:159895400-159896000	Flanking Active TSS	HSMM	muscle
31	chr1:159895400-159896000	Flanking Active TSS	HSMMtube	muscle
32	chr1:159895400-159896000	Flanking Active TSS	HUVEC	blood vessel
33	chr1:159895400-159896000	Flanking Active TSS	K562	blood
34	chr1:159895400-159896000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr1:159895400-159896000	Flanking Active TSS	NH-A	brain
36	chr1:159895400-159896000	Flanking Active TSS	NHEK	skin
37	chr1:159895400-159896000	Flanking Active TSS	Osteobl	bone
38	chr1:159895400-159896200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:159895400-159896200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr1:159895400-159896200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr1:159895400-159896200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:159895400-159896200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:159895400-159896200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:159895400-159896200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
45	chr1:159895400-159896200	Flanking Active TSS	Fetal Lung	lung
46	chr1:159895400-159896200	Flanking Active TSS	Hela-S3	cervix
47	chr1:159895400-159896400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr1:159895400-159896400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr1:159895600-159896000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:159895600-159896000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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