Variant report

Variant	rs9296169
Chromosome Location	chr6:35889315-35889316
allele	G/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	MAX	chr6:35888450-35889411	A549	lung:	n/a	chr6:35889002-35889012 chr6:35889021-35889031
2	MAX	chr6:35888533-35889347	H1-hESC	embryonic stem cell:	n/a	chr6:35889002-35889012 chr6:35889021-35889031
3	EGR1	chr6:35888552-35889353	HCT-116	colon:	n/a	chr6:35888963-35888972 chr6:35889002-35889015 chr6:35889004-35889014 chr6:35889005-35889015 chr6:35889002-35889015 chr6:35889024-35889034 chr6:35888936-35888950
4	NFIC	chr6:35888616-35889360	HepG2	liver:	n/a	n/a
5	EP300	chr6:35888717-35889586	K562	blood:	n/a	chr6:35889452-35889466 chr6:35889321-35889334
6	POLR2A	chr6:35888513-35889320	K562	blood:	n/a	n/a
7	E2F4	chr6:35888704-35889352	MCF10A-Er-Src	breast:	n/a	chr6:35888963-35888972 chr6:35889127-35889134
8	JUND	chr6:35888672-35889359	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF1	chr6:35887651-35889345	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAFF	chr6:35889001-35889327	K562	blood:	n/a	chr6:35889154-35889172
11	POLR2A	chr6:35888500-35889380	SK-N-MC	brain:	n/a	n/a
12	ZNF143	chr6:35888748-35889369	Hela-S3	cervix:	n/a	n/a
13	ARID3A	chr6:35888701-35889573	HepG2	liver:	n/a	n/a
14	CBX3	chr6:35888966-35889378	K562	blood:	n/a	n/a
15	MAX	chr6:35887267-35889494	HepG2	liver:	n/a	chr6:35889002-35889012 chr6:35889021-35889031 chr6:35888127-35888137
16	JUND	chr6:35888681-35889347	K562	blood:	n/a	n/a
17	NRF1	chr6:35888550-35889548	SK-N-SH	brain:	n/a	chr6:35888854-35888865 chr6:35888964-35888973 chr6:35888959-35888973
18	MAX	chr6:35888533-35889337	ECC-1	luminal epithelium:	n/a	chr6:35889002-35889012 chr6:35889021-35889031
19	REST	chr6:35888586-35889332	A549	lung:	n/a	chr6:35889148-35889166 chr6:35889147-35889167 chr6:35889011-35889024 chr6:35889147-35889167 chr6:35889147-35889167
20	HEY1	chr6:35888546-35889369	HepG2	liver:	n/a	chr6:35888958-35888973
21	ZMIZ1	chr6:35888628-35889421	K562	blood:	n/a	n/a
22	MAX	chr6:35888617-35889323	Hela-S3	cervix:	n/a	chr6:35889002-35889012 chr6:35889021-35889031
23	POLR2A	chr6:35888577-35889453	PBDE	blood:	n/a	n/a
24	E2F6	chr6:35888543-35889317	A549	lung:	n/a	chr6:35888963-35888972 chr6:35889127-35889134
25	ZBTB7A	chr6:35888507-35889351	ECC-1	luminal epithelium:	n/a	chr6:35889026-35889035
26	MAZ	chr6:35886843-35889396	IMR90	lung:	n/a	chr6:35889002-35889012 chr6:35889021-35889031
27	MXI1	chr6:35888588-35889318	HepG2	liver:	n/a	n/a
28	MAX	chr6:35888573-35889414	ECC-1	luminal epithelium:	n/a	chr6:35889002-35889012 chr6:35889021-35889031
29	POLR2A	chr6:35887238-35889428	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr6:35888457-35889333	HUVEC	blood vessel:	n/a	n/a
31	TBL1XR1	chr6:35888799-35889383	K562	blood:	n/a	n/a
32	POLR2A	chr6:35887305-35889398	HepG2	liver:	n/a	n/a
33	JUND	chr6:35888518-35889887	SK-N-SH	brain:	n/a	n/a
34	E2F6	chr6:35888543-35889379	H1-hESC	embryonic stem cell:	n/a	chr6:35888963-35888972 chr6:35889127-35889134
35	RCOR1	chr6:35888725-35889338	HepG2	liver:	n/a	n/a
36	MAX	chr6:35888529-35889391	MCF-7	breast:	n/a	chr6:35889002-35889012 chr6:35889021-35889031
37	MAX	chr6:35888529-35889528	HCT-116	colon:	n/a	chr6:35889002-35889012 chr6:35889021-35889031
38	STAT5A	chr6:35888562-35889317	GM12878	blood:	n/a	n/a
39	MAX	chr6:35887320-35889320	K562	blood:	n/a	chr6:35889002-35889012 chr6:35889021-35889031 chr6:35888127-35888137
40	POLR2A	chr6:35888576-35889324	K562	blood:	n/a	n/a
41	POLR2A	chr6:35888541-35889359	HL-60	blood:	n/a	n/a
42	BACH1	chr6:35888993-35889345	K562	blood:	n/a	n/a
43	TCF12	chr6:35888813-35889447	A549	lung:	n/a	chr6:35888990-35889000
44	NR2F2	chr6:35888624-35889465	K562	blood:	n/a	n/a
45	TCF12	chr6:35888530-35889325	ECC-1	luminal epithelium:	n/a	chr6:35888990-35889000
46	MBD4	chr6:35888822-35889441	HepG2	liver:	n/a	n/a
47	ZNF143	chr6:35888701-35889374	K562	blood:	n/a	n/a
48	MAFK	chr6:35888798-35889362	K562	blood:	n/a	chr6:35889161-35889170 chr6:35889161-35889171 chr6:35889156-35889171
49	MAFK	chr6:35888904-35889354	HepG2	liver:	n/a	chr6:35889161-35889170 chr6:35889161-35889171 chr6:35889156-35889171
50	CHD1	chr6:35888651-35889353	GM12878	blood:	n/a	chr6:35889127-35889134

No.	Distal block	Cell Line	Cell type
1	chr16:27324243..27326637-chr6:35887924..35890289,2	MCF-7	breast:
2	chr6:35888094..35890859-chr6:36167243..36169952,2	K562	blood:
3	chr6:35887479..35890120-chr6:35993309..35995768,2	K562	blood:

Variant related genes	Relation type
SRPK1	TF binding region
ENSG00000112062	Chromatin interaction
ENSG00000077238	Chromatin interaction
ENSG00000096070	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11967286	1.00[AMR][1000 genomes]
rs11968307	1.00[AMR][1000 genomes]
rs11969934	1.00[AMR][1000 genomes]
rs16882039	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28763973	1.00[AMR][1000 genomes]
rs61763103	1.00[AMR][1000 genomes]
rs7752369	1.00[AMR][1000 genomes]
rs9296167	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9462123	1.00[AMR][1000 genomes]
rs9462137	1.00[AMR][1000 genomes]
rs9462139	1.00[AMR][1000 genomes]
rs9462148	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9462149	1.00[AMR][1000 genomes]
rs9470106	1.00[AMR][1000 genomes]
rs9470107	1.00[AMR][1000 genomes]
rs9470110	1.00[AMR][1000 genomes]
rs9470129	1.00[AMR][1000 genomes]
rs9470137	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	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3403583	chr6:35887399-35889947	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35886000-35889800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:35886000-35890000	Active TSS	GM12878-XiMat	blood
3	chr6:35886200-35889400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr6:35886200-35889600	Active TSS	Fetal Intestine Large	intestine
5	chr6:35886400-35889400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:35886400-35889400	Active TSS	Brain Anterior Caudate	brain
7	chr6:35886400-35889600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:35886400-35889600	Active TSS	Brain Cingulate Gyrus	brain
9	chr6:35886400-35889600	Active TSS	HMEC	breast
10	chr6:35886400-35890400	Active TSS	A549	lung
11	chr6:35886600-35889600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:35886800-35889400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr6:35886800-35889400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr6:35886800-35889400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr6:35886800-35889400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:35886800-35889400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:35886800-35889400	Active TSS	NHLF	lung
18	chr6:35887000-35889400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:35887000-35889400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:35887000-35889400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:35887000-35889400	Active TSS	Esophagus	oesophagus
22	chr6:35887000-35889400	Active TSS	HSMM	muscle
23	chr6:35887000-35890000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr6:35887000-35890200	Active TSS	Hela-S3	cervix
25	chr6:35887200-35889600	Active TSS	Muscle Satellite Cultured Cells	--
26	chr6:35887200-35889800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:35887200-35889800	Active TSS	Aorta	Aorta
28	chr6:35887200-35889800	Active TSS	NHEK	skin
29	chr6:35887400-35889400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:35887400-35889400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:35887400-35889400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:35887400-35889800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:35887400-35890000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr6:35887600-35889400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:35887600-35889400	Active TSS	Ovary	ovary
36	chr6:35887600-35889400	Active TSS	Right Ventricle	heart
37	chr6:35887600-35889600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:35887800-35889400	Active TSS	Brain Angular Gyrus	brain
39	chr6:35887800-35889400	Active TSS	Brain Substantia Nigra	brain
40	chr6:35887800-35889400	Active TSS	Colon Smooth Muscle	Colon
41	chr6:35887800-35889400	Active TSS	Placenta	Placenta
42	chr6:35887800-35889400	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr6:35887800-35889600	Active TSS	Brain Hippocampus Middle	brain
44	chr6:35887800-35889600	Active TSS	Thymus	Thymus
45	chr6:35887800-35889600	Bivalent/Poised TSS	HepG2	liver
46	chr6:35887800-35889600	Active TSS	K562	blood
47	chr6:35887800-35889800	Active TSS	Psoas Muscle	Psoas
48	chr6:35887800-35889800	Active TSS	Rectal Smooth Muscle	rectum
49	chr6:35888000-35889400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:35888000-35889400	Active TSS	Pancreas	Pancrea

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