Variant report

Variant	rs4075451
Chromosome Location	chr6:166722172-166722173
allele	A/C
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	chr6:166720340-166722424	GM12892	blood:	n/a	n/a
2	POLR2A	chr6:166721427-166722297	GM12878	blood:	n/a	n/a
3	E2F6	chr6:166720374-166722522	H1-hESC	embryonic stem cell:	n/a	chr6:166722231-166722243 chr6:166722235-166722242 chr6:166722235-166722242 chr6:166722235-166722242 chr6:166721978-166721988
4	MAX	chr6:166721981-166722439	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD1	chr6:166721944-166722338	GM12878	blood:	n/a	n/a
6	NFIC	chr6:166721798-166722199	ECC-1	luminal epithelium:	n/a	n/a
7	MAZ	chr6:166721794-166722307	GM12878	blood:	n/a	n/a
8	E2F6	chr6:166720393-166722409	H1-hESC	embryonic stem cell:	n/a	chr6:166722231-166722243 chr6:166722235-166722242 chr6:166722235-166722242 chr6:166722235-166722242 chr6:166721978-166721988
9	EBF1	chr6:166721806-166722330	GM12878	blood:	n/a	chr6:166722139-166722149 chr6:166722140-166722151 chr6:166722140-166722149
10	ZBTB7A	chr6:166721064-166722277	ECC-1	luminal epithelium:	n/a	n/a
11	TBP	chr6:166722033-166722233	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:166721730-166722387	GM12891	blood:	n/a	n/a
13	POU2F2	chr6:166721928-166722306	GM12891	blood:	n/a	n/a
14	TCF3	chr6:166721671-166722271	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:166721721-166722237	GM12878	blood:	n/a	n/a
16	STAT5A	chr6:166721970-166722268	GM12878	blood:	n/a	n/a
17	MAX	chr6:166721909-166722369	GM12878	blood:	n/a	n/a
18	ELF1	chr6:166721648-166722347	GM12878	blood:	n/a	chr6:166722045-166722057
19	POLR2A	chr6:166720479-166722422	GM18951	blood:	n/a	n/a
20	ZNF143	chr6:166721818-166722335	GM12878	blood:	n/a	n/a
21	TAF1	chr6:166721795-166722173	GM12878	blood:	n/a	n/a
22	TBL1XR1	chr6:166722066-166722548	GM12878	blood:	n/a	n/a
23	TCF3	chr6:166722008-166722228	GM12878	blood:	n/a	n/a
24	EP300	chr6:166722020-166722383	GM12878	blood:	n/a	chr6:166722305-166722321
25	BCLAF1	chr6:166721860-166722417	GM12878	blood:	n/a	n/a
26	MAX	chr6:166721836-166722471	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:166721701-166722482	GM12892	blood:	n/a	n/a
28	EBF1	chr6:166721783-166722517	GM12878	blood:	n/a	chr6:166722139-166722149 chr6:166722140-166722151 chr6:166722140-166722149
29	PAX5	chr6:166722012-166722326	GM12878	blood:	n/a	chr6:166722055-166722064
30	RELA	chr6:166721914-166722392	GM19099	blood:	n/a	n/a
31	BCL3	chr6:166721858-166722322	GM12878	blood:	n/a	n/a
32	MXI1	chr6:166721901-166722298	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:166720329-166722388	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:166720245-166722412	GM19099	blood:	n/a	n/a
35	SIN3A	chr6:166721776-166722237	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr6:166721782-166722393	ECC-1	luminal epithelium:	n/a	n/a
37	RUNX3	chr6:166721848-166722468	GM12878	blood:	n/a	n/a
38	CTCF	chr6:166722080-166722230	HepG2	liver:	n/a	chr6:166722081-166722094 chr6:166722141-166722150
39	POLR2A	chr6:166720175-166722464	GM12892	blood:	n/a	n/a
40	STAT1	chr6:166722094-166722397	GM12878	blood:	n/a	n/a
41	WRNIP1	chr6:166722124-166722347	GM12878	blood:	n/a	n/a
42	BHLHE40	chr6:166721775-166722393	GM12878	blood:	n/a	chr6:166722082-166722098
43	CTCF	chr6:166721933-166722276	GM12878	blood:	n/a	chr6:166722081-166722094 chr6:166722141-166722150
44	MAX	chr6:166721188-166722338	HepG2	liver:	n/a	n/a
45	EBF1	chr6:166721886-166722308	GM12878	blood:	n/a	chr6:166722139-166722149 chr6:166722140-166722151 chr6:166722140-166722149
46	POLR2A	chr6:166721640-166722837	GM12891	blood:	n/a	n/a
47	SMC3	chr6:166721978-166722369	GM12878	blood:	n/a	chr6:166722078-166722092 chr6:166722041-166722055
48	ELF1	chr6:166720666-166722321	GM12878	blood:	n/a	chr6:166722045-166722057
49	TCF12	chr6:166721902-166722303	GM12878	blood:	n/a	chr6:166722085-166722092
50	RELA	chr6:166721677-166722432	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:166722165-166722215	T-47D	breast:	n/a
2	chr6:166722165-166722215	HCM	heart:	n/a
3	chr6:166722165-166722215	BJ	skin:	n/a
4	chr6:166722165-166722215	GM19239	blood:	n/a
5	chr6:166722165-166722215	Hepatocyte	liver:	n/a
6	chr6:166722165-166722215	NHDF-neo	bronchial:	n/a
7	chr6:166722165-166722215	GM12892	blood:	n/a
8	chr6:166722165-166722215	HEEpiC	esophagus:	n/a
9	chr6:166722165-166722215	MCF-7	breast:	n/a
10	chr6:166722165-166722215	NB4	blood:	n/a
11	chr6:166722165-166722215	HCT-116	colon:	n/a
12	chr6:166722165-166722215	HepG2	liver:	n/a
13	chr6:166722165-166722215	HL-60	blood:	n/a
14	chr6:166722165-166722215	HUVEC	blood vessel:	n/a
15	chr6:166722165-166722215	AG10803	skin:	n/a
16	chr6:166722165-166722215	SK-N-SH	brain:	n/a
17	chr6:166722165-166722215	A549	lung:	n/a
18	chr6:166722165-166722215	PFSK-1	brain:	n/a
19	chr6:166722165-166722215	Jurkat	blood:	n/a
20	chr6:166722165-166722215	SK-N-SH_RA	brain:	n/a
21	chr6:166722165-166722215	HNPCEpiC	eye:	n/a
22	chr6:166722165-166722215	AG09309	skin:	n/a
23	chr6:166722165-166722215	NT2-D1	testis:	n/a
24	chr6:166722165-166722215	HRPEpiC	eye:	n/a
25	chr6:166722165-166722215	HEK293	kidney:	embryo
26	chr6:166722165-166722215	PANC-1	pancreas:	n/a
27	chr6:166722165-166722215	BE2_C	brain:	n/a
28	chr6:166722165-166722215	LNCaP	prostate:	n/a
29	chr6:166722165-166722215	GM12878	blood:	n/a
30	chr6:166722165-166722215	HIPEpiC	eye:	n/a
31	chr6:166722165-166722215	Hela-S3	cervix:	n/a
32	chr6:166722165-166722215	U87	brain:	n/a
33	chr6:166722165-166722215	HCPEpiC	choroid plexus:	n/a
34	chr6:166722165-166722215	AG09319	gingival:	n/a
35	chr6:166722165-166722215	AoSMC	blood vessel:	n/a
36	chr6:166722165-166722215	GM12891	blood:	n/a
37	chr6:166722165-166722215	Caco-2	colon:	n/a
38	chr6:166722165-166722215	RPTEC	kidney:	n/a
39	chr6:166722165-166722215	AG04450	lung:	fetal
40	chr6:166722165-166722215	K562	blood:	n/a
41	chr6:166722165-166722215	GM06990	blood:	n/a
42	chr6:166722165-166722215	H1-hESC	embryonic stem cell:	embryo
43	chr6:166722165-166722215	ProgFib	skin:	n/a
44	chr6:166722165-166722215	CMK	blood:	n/a
45	chr6:166722165-166722215	PrEC	prostate:	n/a
46	chr6:166722165-166722215	HAEpiC	amniotic membrane:	n/a
47	chr6:166722165-166722215	NH-A	brain:	n/a
48	chr6:166722165-166722215	HPAEpiC	pulmonary alveolar:	n/a
49	chr6:166722165-166722215	HCF	heart:	n/a
50	chr6:166722165-166722215	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166719852..166722547-chr6:166755922..166758056,2	K562	blood:

Variant related genes	Relation type
PRR18	TF binding region
PRR18	CpG island
ENSG00000198818	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1108821	1.00[ASN][1000 genomes]
rs1108822	1.00[ASN][1000 genomes]
rs4263564	1.00[ASN][1000 genomes]
rs4599613	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886934	chr6:166642850-166747572	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv886935	chr6:166704744-166726566	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv886936	chr6:166714024-166731289	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3356004	chr6:166719787-166722335	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv823927	chr6:166719837-166722561	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3421182	chr6:166720387-166722935	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166718800-166722600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:166719200-166722400	Active TSS	Brain Substantia Nigra	brain
3	chr6:166719400-166722400	Active TSS	Brain Cingulate Gyrus	brain
4	chr6:166719800-166722400	Bivalent Enhancer	Fetal Brain Male	brain
5	chr6:166720200-166722200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
6	chr6:166720200-166722400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:166720400-166722200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr6:166720400-166722200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:166720400-166722200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:166720400-166722200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr6:166720400-166722400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr6:166720400-166722400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr6:166720400-166722400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:166720400-166722400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:166720400-166722600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:166720400-166722600	Active TSS	Brain Angular Gyrus	brain
17	chr6:166720600-166722200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:166720600-166722200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:166720600-166722200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
20	chr6:166720600-166722200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
21	chr6:166720600-166722200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
22	chr6:166720600-166722200	Bivalent Enhancer	Spleen	Spleen
23	chr6:166720600-166722200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
24	chr6:166720600-166722400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr6:166720600-166722400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:166720600-166722400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:166720600-166722400	Active TSS	Brain Anterior Caudate	brain
28	chr6:166720600-166723000	Flanking Active TSS	Liver	Liver
29	chr6:166720800-166722200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr6:166720800-166722200	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr6:166720800-166722200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:166720800-166722200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:166720800-166722200	Active TSS	Aorta	Aorta
34	chr6:166720800-166722200	Active TSS	HSMM	muscle
35	chr6:166720800-166722400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:166720800-166722400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
37	chr6:166720800-166722600	Active TSS	Brain Hippocampus Middle	brain
38	chr6:166721000-166722200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:166721000-166722200	Active TSS	Left Ventricle	heart
40	chr6:166721000-166722400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:166721000-166722600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr6:166721200-166722200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:166721200-166722200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:166721200-166722200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:166721200-166722200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
46	chr6:166721200-166722200	Bivalent/Poised TSS	Ovary	ovary
47	chr6:166721200-166722200	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
48	chr6:166721200-166722400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
49	chr6:166721400-166722200	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr6:166721400-166722200	Bivalent/Poised TSS	Thymus	Thymus

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