Variant report

Variant	rs9482134
Chromosome Location	chr6:121655734-121655735
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	IRF1	chr6:121655234-121657101	K562	blood:	n/a	chr6:121656078-121656092 chr6:121656077-121656091 chr6:121656078-121656098 chr6:121656083-121656097 chr6:121656086-121656096 chr6:121656080-121656094 chr6:121656082-121656096 chr6:121656035-121656044 chr6:121656080-121656091 chr6:121656080-121656101 chr6:121656079-121656091 chr6:121656079-121656091 chr6:121656086-121656097 chr6:121656079-121656096 chr6:121656081-121656092 chr6:121656048-121656059 chr6:121656084-121656097 chr6:121656087-121656098 chr6:121656084-121656097 chr6:121656078-121656091 chr6:121656080-121656090 chr6:121656076-121656090 chr6:121656079-121656093 chr6:121656086-121656100 chr6:121656084-121656097
2	TAL1	chr6:121655483-121656536	K562	blood:	n/a	n/a
3	TCF12	chr6:121655444-121656171	A549	lung:	n/a	chr6:121655767-121655777
4	POLR2A	chr6:121655502-121656187	GM12891	blood:	n/a	n/a
5	ATF2	chr6:121655484-121656264	H1-hESC	embryonic stem cell:	n/a	chr6:121655914-121655928 chr6:121655916-121655927
6	POLR2A	chr6:121655402-121656213	NB4	blood:	n/a	n/a
7	MYC	chr6:121655500-121656265	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr6:121655241-121656316	HUVEC	blood vessel:	n/a	n/a
9	JUN	chr6:121655678-121656043	H1-hESC	embryonic stem cell:	n/a	chr6:121655917-121655926 chr6:121655916-121655929
10	REST	chr6:121655424-121656055	HepG2	liver:	n/a	n/a
11	TCF7L2	chr6:121655498-121656081	Hela-S3	cervix:	n/a	n/a
12	MAX	chr6:121655334-121656244	A549	lung:	n/a	n/a
13	JUND	chr6:121655553-121656063	HepG2	liver:	n/a	chr6:121655917-121655926
14	POLR2A	chr6:121655402-121656170	Hela-S3	cervix:	n/a	n/a
15	POU2F2	chr6:121655438-121655969	GM12891	blood:	n/a	chr6:121655718-121655730
16	ATF2	chr6:121655444-121656250	H1-hESC	embryonic stem cell:	n/a	chr6:121655914-121655928 chr6:121655916-121655927
17	CHD2	chr6:121655457-121656061	H1-hESC	embryonic stem cell:	n/a	n/a
18	CCNT2	chr6:121655494-121656016	K562	blood:	n/a	n/a
19	PML	chr6:121655229-121656291	GM12878	blood:	n/a	n/a
20	MTA3	chr6:121655653-121656322	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:121655461-121656168	HepG2	liver:	n/a	n/a
22	PBX3	chr6:121655286-121656332	SK-N-SH	brain:	n/a	n/a
23	FOXP2	chr6:121655470-121655829	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr6:121655378-121656568	K562	blood:	n/a	n/a
25	CTCF	chr6:121655717-121655749	GM19238	blood:	n/a	chr6:121655717-121655730
26	POLR2A	chr6:121655526-121656146	HepG2	liver:	n/a	n/a
27	USF1	chr6:121655654-121655957	A549	lung:	n/a	n/a
28	POLR2A	chr6:121655367-121656781	Raji	blood:	n/a	n/a
29	POLR2A	chr6:121655420-121656098	K562	blood:	n/a	n/a
30	SIN3AK20	chr6:121655498-121656104	K562	blood:	n/a	n/a
31	MAX	chr6:121655352-121656282	SK-N-SH	brain:	n/a	n/a
32	MAX	chr6:121655338-121656178	MCF-7	breast:	n/a	n/a
33	E2F6	chr6:121655466-121656031	K562	blood:	n/a	chr6:121655916-121655925 chr6:121655635-121655644 chr6:121655641-121655650 chr6:121655918-121655927
34	CTCF	chr6:121655700-121655850	AG04449	skin:	n/a	chr6:121655717-121655730
35	POLR2A	chr6:121655482-121656300	HL-60	blood:	n/a	n/a
36	POLR2A	chr6:121655364-121656362	Hela-S3	cervix:	n/a	n/a
37	MAFK	chr6:121655558-121656038	HepG2	liver:	n/a	n/a
38	CREB1	chr6:121655363-121656545	HepG2	liver:	n/a	chr6:121655915-121655928
39	IRF4	chr6:121655425-121656310	GM12878	blood:	n/a	chr6:121656080-121656101 chr6:121656084-121656098
40	SMC3	chr6:121655390-121656014	Hela-S3	cervix:	n/a	chr6:121655971-121655981
41	MYC	chr6:121655420-121656362	NB4	blood:	n/a	n/a
42	POLR2A	chr6:121655387-121656215	MCF-7	breast:	n/a	n/a
43	FOS	chr6:121655572-121656091	MCF10A-Er-Src	breast:	n/a	chr6:121655917-121655926 chr6:121656077-121656089
44	PML	chr6:121655318-121656350	K562	blood:	n/a	n/a
45	NRF1	chr6:121655223-121656103	SK-N-SH	brain:	n/a	chr6:121655640-121655651 chr6:121655634-121655645 chr6:121655631-121655645 chr6:121655633-121655644 chr6:121655640-121655654 chr6:121655634-121655643 chr6:121655640-121655649 chr6:121655634-121655648
46	BRCA1	chr6:121655445-121655948	HepG2	liver:	n/a	n/a
47	MAX	chr6:121655288-121656316	A549	lung:	n/a	n/a
48	POLR2A	chr6:121655471-121656318	GM12892	blood:	n/a	n/a
49	TBL1XR1	chr6:121655653-121656375	K562	blood:	n/a	n/a
50	POLR2A	chr6:121655352-121656364	HCT-116	colon:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:121655706-121655756	IMR90	lung:	fetal
2	chr6:121655706-121655756	LNCaP	prostate:	n/a
3	chr6:121655706-121655756	HCF	heart:	n/a
4	chr6:121655706-121655756	GM12878	blood:	n/a
5	chr6:121655706-121655756	NHBE	bronchial:	n/a
6	chr6:121655706-121655756	SK-N-SH_RA	brain:	n/a
7	chr6:121655706-121655756	HL-60	blood:	n/a
8	chr6:121655706-121655756	HRCEpiC	kidney:	n/a
9	chr6:121655706-121655756	RPTEC	kidney:	n/a
10	chr6:121655706-121655756	SK-N-MC	brain:	n/a
11	chr6:121655706-121655756	HPAEpiC	pulmonary alveolar:	n/a
12	chr6:121655706-121655756	A549	lung:	n/a
13	chr6:121655706-121655756	U87	brain:	n/a
14	chr6:121655706-121655756	GM12892	blood:	n/a
15	chr6:121655706-121655756	CMK	blood:	n/a
16	chr6:121655706-121655756	NT2-D1	testis:	n/a
17	chr6:121655706-121655756	Hela-S3	cervix:	n/a
18	chr6:121655706-121655756	HNPCEpiC	eye:	n/a
19	chr6:121655706-121655756	NB4	blood:	n/a
20	chr6:121655706-121655756	HRE	kidney:	n/a
21	chr6:121655706-121655756	SK-N-SH	brain:	n/a
22	chr6:121655706-121655756	T-47D	breast:	n/a
23	chr6:121655706-121655756	AG09309	skin:	n/a
24	chr6:121655706-121655756	AoSMC	blood vessel:	n/a
25	chr6:121655706-121655756	ovcar-3	ovarian:	n/a
26	chr6:121655706-121655756	GM19239	blood:	n/a
27	chr6:121655706-121655756	ECC-1	luminal epithelium:	n/a
28	chr6:121655706-121655756	HEEpiC	esophagus:	n/a
29	chr6:121655706-121655756	SKMC	muscle:	n/a
30	chr6:121655706-121655756	AG10803	skin:	n/a
31	chr6:121655706-121655756	ProgFib	skin:	n/a
32	chr6:121655706-121655756	HMEC	breast:	n/a
33	chr6:121655706-121655756	HEK293	kidney:	embryo
34	chr6:121655706-121655756	PrEC	prostate:	n/a
35	chr6:121655706-121655756	PANC-1	pancreas:	n/a
36	chr6:121655706-121655756	Jurkat	blood:	n/a
37	chr6:121655706-121655756	HAEpiC	amniotic membrane:	n/a
38	chr6:121655706-121655756	Hepatocyte	liver:	n/a
39	chr6:121655706-121655756	K562	blood:	n/a
40	chr6:121655706-121655756	NHDF-neo	bronchial:	n/a
41	chr6:121655706-121655756	SAEC	small airway:	n/a
42	chr6:121655706-121655756	HIPEpiC	eye:	n/a
43	chr6:121655706-121655756	BJ	skin:	n/a
44	chr6:121655706-121655756	GM12891	blood:	n/a
45	chr6:121655706-121655756	HCM	heart:	n/a
46	chr6:121655706-121655756	GM06990	blood:	n/a
47	chr6:121655706-121655756	BE2_C	brain:	n/a
48	chr6:121655706-121655756	HUVEC	blood vessel:	n/a
49	chr6:121655706-121655756	HepG2	liver:	n/a
50	chr6:121655706-121655756	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:30723319..30724112-chr6:121655622..121656171,2	MCF-7	breast:
2	chr13:111365793..111366397-chr6:121655471..121656257,2	HCT-116	colon:

Variant related genes	Relation type
TBC1D32	TF binding region
TBC1D32	CpG island
ENSG00000169851	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000153487	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17083247	1.00[AMR][1000 genomes]
rs17083364	1.00[AMR][1000 genomes]
rs17083423	1.00[AMR][1000 genomes]
rs6569198	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6569199	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6905024	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6909602	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6918861	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6924917	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6929839	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6941053	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9482132	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9482133	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9482135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9482136	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9482138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9482140	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9482141	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9482142	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9490166	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9490168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9490169	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9490171	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9490172	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9490174	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9490175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9490176	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9490178	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9490179	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9490180	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS 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	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv830789	chr6:121581450-121732320	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121651600-121656200	Active TSS	K562	blood
2	chr6:121653400-121656600	Active TSS	GM12878-XiMat	blood
3	chr6:121654400-121657000	Active TSS	Duodenum Mucosa	Duodenum
4	chr6:121654600-121656200	Active TSS	Hela-S3	cervix
5	chr6:121654600-121656800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr6:121654600-121656800	Active TSS	A549	lung
7	chr6:121654800-121656400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:121654800-121656800	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr6:121655000-121655800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr6:121655000-121656200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:121655000-121656200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:121655000-121656200	Active TSS	Primary T cells from cord blood	blood
13	chr6:121655000-121656200	Active TSS	Muscle Satellite Cultured Cells	--
14	chr6:121655000-121656200	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr6:121655000-121656200	Active TSS	NHEK	skin
16	chr6:121655000-121656400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:121655000-121656400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:121655000-121656400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:121655000-121656400	Active TSS	Brain Anterior Caudate	brain
20	chr6:121655000-121656400	Active TSS	Placenta	Placenta
21	chr6:121655000-121656400	Active TSS	Fetal Stomach	stomach
22	chr6:121655000-121656400	Active TSS	HSMM	muscle
23	chr6:121655000-121656600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr6:121655000-121656600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:121655000-121656600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:121655000-121656600	Active TSS	Psoas Muscle	Psoas
27	chr6:121655000-121656800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:121655000-121656800	Active TSS	Colonic Mucosa	Colon
29	chr6:121655200-121656200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:121655200-121656200	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr6:121655200-121656200	Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr6:121655200-121656200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:121655200-121656200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr6:121655200-121656200	Active TSS	Brain Cingulate Gyrus	brain
35	chr6:121655200-121656200	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr6:121655200-121656200	Active TSS	Fetal Kidney	kidney
37	chr6:121655200-121656200	Active TSS	Dnd41	blood
38	chr6:121655200-121656400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:121655200-121656400	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr6:121655200-121656400	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr6:121655200-121656400	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr6:121655200-121656400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:121655200-121656400	Active TSS	Brain Angular Gyrus	brain
44	chr6:121655200-121656400	Active TSS	Brain Hippocampus Middle	brain
45	chr6:121655200-121656400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr6:121655200-121656400	Active TSS	Fetal Intestine Small	intestine
47	chr6:121655200-121656400	Active TSS	Fetal Lung	lung
48	chr6:121655200-121656400	Active TSS	Thymus	Thymus
49	chr6:121655200-121656400	Active TSS	HMEC	breast
50	chr6:121655200-121656400	Active TSS	NHDF-Ad	bronchial

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