Variant report

Variant	rs34156110
Chromosome Location	chr6:35181966-35181967
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	ZBTB7A	chr6:35181683-35182691	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr6:35181693-35182187	SK-N-SH	brain:	n/a	chr6:35181919-35181929
3	TAF1	chr6:35181661-35182065	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr6:35181762-35182008	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:35181028-35182507	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr6:35181810-35182382	A549	lung:	n/a	n/a
7	ELF1	chr6:35181924-35182457	GM12878	blood:	n/a	n/a
8	ZBTB7A	chr6:35181366-35182192	ECC-1	luminal epithelium:	n/a	n/a
9	ZBTB7A	chr6:35181923-35182159	K562	blood:	n/a	n/a
10	MAX	chr6:35181657-35182110	ECC-1	luminal epithelium:	n/a	chr6:35181919-35181929
11	MAX	chr6:35181193-35182456	H1-hESC	embryonic stem cell:	n/a	chr6:35181443-35181452 chr6:35181919-35181929 chr6:35181439-35181448
12	CTBP2	chr6:35181103-35182305	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3AK20	chr6:35181215-35182090	H1-hESC	embryonic stem cell:	n/a	n/a
14	TBP	chr6:35181808-35182305	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr6:35181636-35182235	ECC-1	luminal epithelium:	n/a	chr6:35181919-35181929
16	E2F6	chr6:35181687-35182454	H1-hESC	embryonic stem cell:	n/a	chr6:35181886-35181896 chr6:35182166-35182176 chr6:35181885-35181894 chr6:35181949-35181959 chr6:35182149-35182164 chr6:35181889-35181899
17	TAF1	chr6:35181047-35182112	H1-neurons	neurons:	n/a	n/a
18	ZNF263	chr6:35181349-35181987	HEK293-T-REx	kidney:	n/a	chr6:35181670-35181691 chr6:35181691-35181712
19	POLR2A	chr6:35181817-35182314	H1-hESC	embryonic stem cell:	n/a	n/a
20	E2F6	chr6:35181622-35182085	A549	lung:	n/a	chr6:35181886-35181896 chr6:35181885-35181894 chr6:35181949-35181959 chr6:35181889-35181899
21	MAX	chr6:35181638-35182439	H1-hESC	embryonic stem cell:	n/a	chr6:35181919-35181929
22	REST	chr6:35180725-35183005	H1-neurons	neurons:	n/a	chr6:35182310-35182323 chr6:35182307-35182327 chr6:35181895-35181908 chr6:35182415-35182428 chr6:35180964-35180974 chr6:35181102-35181115 chr6:35182307-35182327 chr6:35182371-35182384 chr6:35181504-35181517
23	POLR2A	chr6:35181072-35182512	H1-neurons	neurons:	n/a	n/a
24	HMGN3	chr6:35181948-35181989	K562	blood:	n/a	n/a
25	MAX	chr6:35181611-35182221	A549	lung:	n/a	chr6:35181919-35181929
26	TAF1	chr6:35181177-35182038	H1-neurons	neurons:	n/a	n/a
27	SIN3A	chr6:35180939-35182758	H1-hESC	embryonic stem cell:	n/a	chr6:35180965-35180974 chr6:35182362-35182371 chr6:35182415-35182428 chr6:35182169-35182180 chr6:35182477-35182488 chr6:35182307-35182320
28	E2F6	chr6:35181937-35182073	K562	blood:	n/a	chr6:35181949-35181959

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35181924-35181974	HCPEpiC	choroid plexus:	n/a
2	chr6:35181924-35181974	HEK293	kidney:	embryo
3	chr6:35181924-35181974	SK-N-MC	brain:	n/a
4	chr6:35181924-35181974	MCF-7	breast:	n/a
5	chr6:35181924-35181974	HL-60	blood:	n/a
6	chr6:35181924-35181974	HAEpiC	amniotic membrane:	n/a
7	chr6:35181924-35181974	H1-hESC	embryonic stem cell:	embryo
8	chr6:35181924-35181974	HepG2	liver:	n/a
9	chr6:35181924-35181974	AG04449	skin:	fetal
10	chr6:35181924-35181974	HRE	kidney:	n/a
11	chr6:35181924-35181974	AG09309	skin:	n/a
12	chr6:35181924-35181974	MCF10A-Er-Src	breast:	n/a
13	chr6:35181924-35181974	SK-N-SH	brain:	n/a
14	chr6:35181924-35181974	NH-A	brain:	n/a
15	chr6:35181924-35181974	GM06990	blood:	n/a
16	chr6:35181924-35181974	Hepatocyte	liver:	n/a
17	chr6:35181924-35181974	BE2_C	brain:	n/a
18	chr6:35181924-35181974	PANC-1	pancreas:	n/a
19	chr6:35181924-35181974	SKMC	muscle:	n/a
20	chr6:35181924-35181974	GM12891	blood:	n/a
21	chr6:35181924-35181974	SK-N-SH_RA	brain:	n/a
22	chr6:35181924-35181974	A549	lung:	n/a
23	chr6:35181924-35181974	PrEC	prostate:	n/a
24	chr6:35181924-35181974	GM19239	blood:	n/a
25	chr6:35181924-35181974	Hela-S3	cervix:	n/a
26	chr6:35181924-35181974	SAEC	small airway:	n/a
27	chr6:35181924-35181974	NB4	blood:	n/a
28	chr6:35181924-35181974	IMR90	lung:	fetal
29	chr6:35181924-35181974	U87	brain:	n/a
30	chr6:35181924-35181974	AG09319	gingival:	n/a
31	chr6:35181924-35181974	HIPEpiC	eye:	n/a
32	chr6:35181924-35181974	HUVEC	blood vessel:	n/a
33	chr6:35181924-35181974	HRPEpiC	eye:	n/a
34	chr6:35181924-35181974	CMK	blood:	n/a
35	chr6:35181924-35181974	HRCEpiC	kidney:	n/a
36	chr6:35181924-35181974	ProgFib	skin:	n/a
37	chr6:35181924-35181974	ECC-1	luminal epithelium:	n/a
38	chr6:35181924-35181974	BJ	skin:	n/a
39	chr6:35181924-35181974	NT2-D1	testis:	n/a
40	chr6:35181924-35181974	LNCaP	prostate:	n/a
41	chr6:35181924-35181974	RPTEC	kidney:	n/a
42	chr6:35181924-35181974	PFSK-1	brain:	n/a
43	chr6:35181924-35181974	NHBE	bronchial:	n/a
44	chr6:35181924-35181974	AoSMC	blood vessel:	n/a
45	chr6:35181924-35181974	NHDF-neo	bronchial:	n/a
46	chr6:35181924-35181974	AG04450	lung:	fetal
47	chr6:35181924-35181974	Jurkat	blood:	n/a
48	chr6:35181924-35181974	HCT-116	colon:	n/a
49	chr6:35181924-35181974	AG10803	skin:	n/a
50	chr6:35181924-35181974	HCM	heart:	n/a

Variant related genes	Relation type
SCUBE3	TF binding region
SCUBE3	CpG island

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10080361	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1013907	0.84[ASN][1000 genomes]
rs10755687	0.85[EUR][1000 genomes]
rs10807150	0.86[EUR][1000 genomes]
rs10947540	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10947542	0.86[EUR][1000 genomes]
rs1108709	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1194	0.82[ASN][1000 genomes]
rs13214290	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1557567	0.86[EUR][1000 genomes]
rs1557568	0.86[EUR][1000 genomes]
rs1590381	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1888822	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1888823	0.82[ASN][1000 genomes]
rs1888824	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1888825	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1894650	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1894651	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1929847	0.82[ASN][1000 genomes]
rs1929849	0.83[ASN][1000 genomes]
rs1987673	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2006184	0.86[EUR][1000 genomes]
rs2018373	0.87[EUR][1000 genomes]
rs2071920	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2267657	0.87[EUR][1000 genomes]
rs2267658	0.81[ASN][1000 genomes]
rs2267662	0.82[ASN][1000 genomes]
rs2267663	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2284195	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2395614	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3777742	0.83[EUR][1000 genomes]
rs3777743	0.87[EUR][1000 genomes]
rs3800385	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800386	0.81[ASN][1000 genomes]
rs3800387	0.81[ASN][1000 genomes]
rs3800388	0.81[ASN][1000 genomes]
rs3800392	0.85[ASN][1000 genomes]
rs3800393	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3800396	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3800401	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4711409	0.84[ASN][1000 genomes]
rs4711411	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4711414	0.82[ASN][1000 genomes]
rs4713841	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4713845	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62403575	0.82[ASN][1000 genomes]
rs6457812	0.86[EUR][1000 genomes]
rs6902523	0.82[ASN][1000 genomes]
rs6907324	0.82[ASN][1000 genomes]
rs6907364	0.84[EUR][1000 genomes]
rs6907795	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6913037	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6920747	0.82[ASN][1000 genomes]
rs6928769	0.85[ASN][1000 genomes]
rs6938946	0.80[ASN][1000 genomes]
rs6940375	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6941471	0.87[EUR][1000 genomes]
rs72909061	0.85[ASN][1000 genomes]
rs7763946	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7769906	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7772212	0.82[ASN][1000 genomes]
rs8205	0.86[EUR][1000 genomes]
rs914547	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9296144	0.82[ASN][1000 genomes]
rs9348970	0.85[EUR][1000 genomes]
rs9366882	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9366883	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9368854	0.81[ASN][1000 genomes]
rs9380497	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9380501	0.82[ASN][1000 genomes]
rs9394283	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9394289	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9462065	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9469958	0.85[EUR][1000 genomes]
rs9469964	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469972	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9469975	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9469979	0.81[ASN][1000 genomes]
rs9469982	0.86[EUR][1000 genomes]
rs965272	0.86[EUR][1000 genomes]
rs968828	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs975496	0.82[ASN][1000 genomes]
rs991145	0.83[ASN][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	esv3428128	chr6:35150524-35225843	Bivalent Enhancer Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2758047	chr6:35168116-35291002	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv2759419	chr6:35168116-35291002	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35180400-35182600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:35180800-35182200	Bivalent/Poised TSS	Fetal Brain Female	brain
3	chr6:35181000-35182000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
4	chr6:35181000-35182200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
5	chr6:35181000-35182400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
6	chr6:35181000-35182600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:35181000-35182600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr6:35181000-35182600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:35181000-35182600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:35181000-35182600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:35181000-35182600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:35181000-35182600	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr6:35181000-35182800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:35181000-35183000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr6:35181000-35183000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:35181200-35182000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
17	chr6:35181200-35182000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:35181200-35182000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
19	chr6:35181200-35182000	Flanking Active TSS	Liver	Liver
20	chr6:35181200-35182000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr6:35181200-35182000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr6:35181200-35182000	Flanking Active TSS	Gastric	stomach
23	chr6:35181200-35182400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:35181200-35182400	Active TSS	Brain Angular Gyrus	brain
25	chr6:35181200-35182400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr6:35181200-35182400	Bivalent/Poised TSS	Fetal Lung	lung
27	chr6:35181200-35182400	Bivalent/Poised TSS	NHEK	skin
28	chr6:35181200-35182600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:35181200-35182600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:35181200-35182600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:35181200-35182600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr6:35181200-35182600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:35181200-35182600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:35181200-35182600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:35181200-35182600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
36	chr6:35181200-35183000	Active TSS	NHDF-Ad	bronchial
37	chr6:35181200-35183200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr6:35181200-35183200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:35181200-35183200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr6:35181200-35184000	Active TSS	Aorta	Aorta
41	chr6:35181200-35185200	Active TSS	Fetal Kidney	kidney
42	chr6:35181400-35182200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:35181400-35182200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:35181400-35182200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:35181400-35182200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
46	chr6:35181400-35182200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:35181400-35182200	Active TSS	Brain Cingulate Gyrus	brain
48	chr6:35181400-35182200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr6:35181400-35182200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:35181400-35182200	Bivalent/Poised TSS	Fetal Intestine Small	intestine

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