Variant report

Variant	rs172435
Chromosome Location	chr6:33359820-33359821
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:288)
CpG islands
(count:244)
Chromatin interactive
region (count:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr6:33358665-33359867	MCF-7	breast:	n/a	chr6:33359092-33359103 chr6:33359093-33359102
2	PML	chr6:33358825-33360593	K562	blood:	n/a	n/a
3	TBL1XR1	chr6:33358537-33359832	K562	blood:	n/a	n/a
4	CREB1	chr6:33358610-33360152	HepG2	liver:	n/a	n/a
5	MAX	chr6:33358846-33360068	K562	blood:	n/a	n/a
6	YY1	chr6:33358930-33359855	GM12878	blood:	n/a	n/a
7	FOXM1	chr6:33358927-33360021	MCF-7	breast:	n/a	n/a
8	TAF1	chr6:33358967-33359969	HepG2	liver:	n/a	n/a
9	TAF1	chr6:33358875-33359861	PFSK-1	brain:	n/a	n/a
10	CCNT2	chr6:33359000-33359852	K562	blood:	n/a	chr6:33359259-33359268 chr6:33359394-33359403
11	FOXM1	chr6:33358786-33360007	GM12878	blood:	n/a	n/a
12	MAZ	chr6:33358908-33360106	K562	blood:	n/a	n/a
13	POLR2A	chr6:33358939-33360152	GM19099	blood:	n/a	n/a
14	CREB1	chr6:33358846-33360316	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:33359356-33359916	ProgFib	skin:	n/a	n/a
16	POLR2A	chr6:33358913-33359838	HL-60	blood:	n/a	n/a
17	TCF7L2	chr6:33359252-33360236	PANC-1	pancreas:	n/a	n/a
18	TAL1	chr6:33358740-33360044	K562	blood:	n/a	n/a
19	MAX	chr6:33358710-33360043	MCF-7	breast:	n/a	n/a
20	SP1	chr6:33358856-33359877	A549	lung:	n/a	chr6:33359257-33359269 chr6:33359393-33359405 chr6:33359259-33359268 chr6:33359393-33359405 chr6:33359394-33359403 chr6:33359258-33359267 chr6:33359258-33359267
21	JUN	chr6:33358933-33359876	K562	blood:	n/a	n/a
22	POLR2A	chr6:33358928-33360168	GM15510	blood:	n/a	n/a
23	TBP	chr6:33358764-33360550	K562	blood:	n/a	n/a
24	PAX5	chr6:33358749-33359892	GM12878	blood:	n/a	chr6:33359101-33359118 chr6:33359421-33359430 chr6:33359099-33359117 chr6:33359424-33359433
25	MAX	chr6:33358658-33360160	GM12878	blood:	n/a	n/a
26	GABPA	chr6:33358703-33360053	MCF-7	breast:	n/a	chr6:33359450-33359464 chr6:33359229-33359238 chr6:33359229-33359240
27	POLR2A	chr6:33358942-33360175	K562	blood:	n/a	n/a
28	SIN3AK20	chr6:33358766-33360408	MCF-7	breast:	n/a	n/a
29	E2F4	chr6:33359169-33360104	GM12878	blood:	n/a	n/a
30	RCOR1	chr6:33358967-33359849	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:33359476-33359882	A549	lung:	n/a	n/a
32	CHD1	chr6:33358308-33361074	IMR90	lung:	n/a	n/a
33	EP300	chr6:33358743-33360046	ECC-1	luminal epithelium:	n/a	chr6:33359093-33359100 chr6:33359422-33359429
34	POLR2A	chr6:33358897-33359952	HepG2	liver:	n/a	n/a
35	POLR2A	chr6:33358886-33360391	GM12878	blood:	n/a	n/a
36	NFYB	chr6:33359074-33360105	GM12878	blood:	n/a	chr6:33359521-33359536
37	MAX	chr6:33358774-33359951	A549	lung:	n/a	n/a
38	POLR2A	chr6:33359405-33359876	HepG2	liver:	n/a	n/a
39	POLR2A	chr6:33359061-33360155	PFSK-1	brain:	n/a	n/a
40	MAX	chr6:33358831-33359867	Hela-S3	cervix:	n/a	n/a
41	TEAD4	chr6:33359357-33360073	ECC-1	luminal epithelium:	n/a	n/a
42	TBL1XR1	chr6:33358530-33360455	K562	blood:	n/a	n/a
43	RELA	chr6:33358974-33360270	GM15510	blood:	n/a	n/a
44	MAZ	chr6:33358797-33360580	IMR90	lung:	n/a	n/a
45	MTA3	chr6:33359513-33360108	GM12878	blood:	n/a	n/a
46	STAT5A	chr6:33359636-33359960	GM12878	blood:	n/a	n/a
47	BCLAF1	chr6:33358869-33359941	GM12878	blood:	n/a	chr6:33359782-33359791 chr6:33359920-33359929 chr6:33359421-33359430 chr6:33359270-33359283 chr6:33359424-33359433 chr6:33359092-33359101
48	SIN3AK20	chr6:33359180-33359846	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:33358875-33360007	NB4	blood:	n/a	n/a
50	EGR1	chr6:33359793-33359956	GM12878	blood:	n/a	chr6:33359846-33359856 chr6:33359920-33359933 chr6:33359898-33359911 chr6:33359842-33359855 chr6:33359898-33359911 chr6:33359915-33359929 chr6:33359898-33359911 chr6:33359893-33359915 chr6:33359898-33359911

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33359817-33359867	AG10803	skin:	n/a
2	chr6:33359817-33359867	AG04450	lung:	fetal
3	chr6:33359789-33359839	NB4	blood:	n/a
4	chr6:33359817-33359867	PrEC	prostate:	n/a
5	chr6:33359786-33359836	SK-N-SH_RA	brain:	n/a
6	chr6:33359786-33359836	PrEC	prostate:	n/a
7	chr6:33359786-33359836	HCT-116	colon:	n/a
8	chr6:33359770-33359820	PrEC	prostate:	n/a
9	chr6:33359817-33359867	ovcar-3	ovarian:	n/a
10	chr6:33359789-33359839	HRE	kidney:	n/a
11	chr6:33359770-33359820	HUVEC	blood vessel:	n/a
12	chr6:33359770-33359820	PANC-1	pancreas:	n/a
13	chr6:33359786-33359836	HCPEpiC	choroid plexus:	n/a
14	chr6:33359817-33359867	HEK293	kidney:	embryo
15	chr6:33359817-33359867	NB4	blood:	n/a
16	chr6:33359789-33359839	Hepatocyte	liver:	n/a
17	chr6:33359789-33359839	T-47D	breast:	n/a
18	chr6:33359770-33359820	AoSMC	blood vessel:	n/a
19	chr6:33359789-33359839	AG04449	skin:	fetal
20	chr6:33359789-33359839	AoSMC	blood vessel:	n/a
21	chr6:33359817-33359867	NT2-D1	testis:	n/a
22	chr6:33359770-33359820	ECC-1	luminal epithelium:	n/a
23	chr6:33359789-33359839	Caco-2	colon:	n/a
24	chr6:33359770-33359820	HCF	heart:	n/a
25	chr6:33359789-33359839	CMK	blood:	n/a
26	chr6:33359789-33359839	HNPCEpiC	eye:	n/a
27	chr6:33359789-33359839	HCM	heart:	n/a
28	chr6:33359817-33359867	MCF10A-Er-Src	breast:	n/a
29	chr6:33359786-33359836	HEK293	kidney:	embryo
30	chr6:33359789-33359839	HepG2	liver:	n/a
31	chr6:33359817-33359867	K562	blood:	n/a
32	chr6:33359817-33359867	HNPCEpiC	eye:	n/a
33	chr6:33359770-33359820	SK-N-SH_RA	brain:	n/a
34	chr6:33359817-33359867	AG09309	skin:	n/a
35	chr6:33359817-33359867	CMK	blood:	n/a
36	chr6:33359786-33359836	NB4	blood:	n/a
37	chr6:33359789-33359839	RPTEC	kidney:	n/a
38	chr6:33359817-33359867	HPAEpiC	pulmonary alveolar:	n/a
39	chr6:33359789-33359839	PANC-1	pancreas:	n/a
40	chr6:33359770-33359820	NHDF-neo	bronchial:	n/a
41	chr6:33359789-33359839	SKMC	muscle:	n/a
42	chr6:33359786-33359836	GM19239	blood:	n/a
43	chr6:33359817-33359867	HAEpiC	amniotic membrane:	n/a
44	chr6:33359770-33359820	LNCaP	prostate:	n/a
45	chr6:33359817-33359867	HRPEpiC	eye:	n/a
46	chr6:33359770-33359820	AG10803	skin:	n/a
47	chr6:33359789-33359839	PFSK-1	brain:	n/a
48	chr6:33359789-33359839	AG10803	skin:	n/a
49	chr6:33359789-33359839	HCF	heart:	n/a
50	chr6:33359789-33359839	NHDF-neo	bronchial:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33357200..33360290-chr6:33405779..33409122,3	K562	blood:
2	chr6:33279220..33282454-chr6:33357653..33360404,5	MCF-7	breast:
3	chr2:85766368..85766924-chr6:33359217..33360206,2	Hela-S3	cervix:
4	chr6:32936394..32938328-chr6:33359727..33361307,2	K562	blood:
5	chr6:33357638..33360083-chr6:33386720..33388943,3	MCF-7	breast:
6	chr6:33237283..33241357-chr6:33358017..33360541,6	K562	blood:
7	chr6:33356382..33361019-chr6:33384058..33388661,8	K562	blood:
8	chr6:33242419..33244049-chr6:33358539..33360870,2	MCF-7	breast:
9	chr6:33359557..33360130-chr9:139257953..139258664,2	Hela-S3	cervix:
10	chr13:111365194..111365970-chr6:33359428..33360074,2	Hela-S3	cervix:
11	chr6:33281855..33283498-chr6:33357981..33360061,3	MCF-7	breast:
12	chr6:33283316..33288344-chr6:33357863..33362367,8	K562	blood:
13	chr6:33357335..33362175-chr6:33383352..33389421,14	K562	blood:
14	chr6:33239039..33242495-chr6:33357243..33362134,5	MCF-7	breast:
15	chr6:33264068..33267385-chr6:33357975..33361447,5	MCF-7	breast:
16	chr6:33359751..33362577-chr6:33420507..33423497,2	K562	blood:
17	chr6:33358575..33362850-chr6:33383674..33386989,4	MCF-7	breast:
18	chr6:33358270..33361160-chr6:33397889..33401606,4	K562	blood:
19	chr6:33357351..33361150-chr6:33373102..33380127,12	MCF-7	breast:
20	chr6:33285348..33292496-chr6:33357328..33361566,13	K562	blood:
21	chr6:33238428..33241280-chr6:33357854..33362793,6	MCF-7	breast:
22	chr6:33166052..33167591-chr6:33358597..33360472,2	K562	blood:
23	chr6:33358222..33360525-chr6:33377821..33380717,3	MCF-7	breast:
24	chr16:3332978..3333677-chr6:33359580..33360146,2	Hela-S3	cervix:
25	chr6:33241732..33243308-chr6:33359602..33361155,2	K562	blood:
26	chr6:33237283..33247485-chr6:33356185..33362256,17	K562	blood:
27	chr6:33280908..33284579-chr6:33359142..33361187,5	K562	blood:
28	chr6:33264179..33271329-chr6:33356528..33360865,9	K562	blood:
29	chr6:33256540..33259907-chr6:33358017..33361464,3	MCF-7	breast:
30	chr6:33283943..33291558-chr6:33357867..33362243,10	MCF-7	breast:
31	chr6:33359301..33359882-chr9:86594730..86595587,2	Hela-S3	cervix:
32	chr6:33243431..33246571-chr6:33357252..33359910,3	MCF-7	breast:
33	chr6:33243392..33248315-chr6:33357393..33361975,11	K562	blood:
34	chr6:33280708..33283139-chr6:33358214..33362149,5	K562	blood:
35	chr17:46126014..46126580-chr6:33359371..33360164,2	Hela-S3	cervix:
36	chr6:33358950..33361251-chr6:33421997..33423819,3	K562	blood:
37	chr6:33253660..33257073-chr6:33358023..33361324,4	K562	blood:
38	chr6:33356271..33363521-chr6:33371085..33380351,32	K562	blood:
39	chr16:69419063..69419660-chr6:33359192..33359906,2	Hela-S3	cervix:
40	chr6:33357884..33361160-chr6:33397889..33401606,5	K562	blood:
41	chr10:103815458..103816068-chr6:33359460..33360056,2	NB4	blood:
42	chr6:33283728..33287391-chr6:33357794..33361686,6	MCF-7	breast:
43	chr6:33265384..33269852-chr6:33356528..33361842,9	K562	blood:
44	chr6:33359285..33360429-chr6:33377538..33378244,3	K562	blood:

No data

Variant related genes	Relation type
RPL35AP4	TF binding region
RPL35AP4	CpG island
ENSG00000213221	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000120029	Chromatin interaction
ENSG00000006194	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000197283	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000112514	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000202441	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000204257	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000264085	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000132604	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000235863	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1977139	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs211472	0.87[EUR][1000 genomes]
rs2747476	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2941555	0.92[EUR][1000 genomes]
rs3106196	0.82[EUR][1000 genomes]
rs3116713	0.82[EUR][1000 genomes]
rs3130012	0.82[EUR][1000 genomes]
rs3130013	0.90[EUR][1000 genomes]
rs3130035	1.00[ASN][1000 genomes]
rs3130104	0.90[EUR][1000 genomes]
rs3130273	0.92[EUR][1000 genomes]
rs395832	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs406009	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs452513	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33358600-33361000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:33358800-33360000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:33358800-33360000	Active TSS	Fetal Brain Female	brain
4	chr6:33358800-33360400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:33358800-33360400	Active TSS	Esophagus	oesophagus
6	chr6:33358800-33360800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:33358800-33360800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:33358800-33360800	Active TSS	NHLF	lung
9	chr6:33358800-33361000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:33358800-33361000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:33358800-33361400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:33358800-33361800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:33359000-33360000	Active TSS	Brain Angular Gyrus	brain
14	chr6:33359000-33360000	Active TSS	Fetal Intestine Small	intestine
15	chr6:33359000-33360000	Active TSS	Fetal Lung	lung
16	chr6:33359000-33360000	Active TSS	Thymus	Thymus
17	chr6:33359000-33360000	Active TSS	NH-A	brain
18	chr6:33359000-33360000	Active TSS	Osteobl	bone
19	chr6:33359000-33360200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:33359000-33360200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:33359000-33360200	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr6:33359000-33360200	Active TSS	Fetal Heart	heart
23	chr6:33359000-33360200	Active TSS	NHEK	skin
24	chr6:33359000-33360400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr6:33359000-33360400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:33359000-33360400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:33359000-33360400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr6:33359000-33360400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr6:33359000-33360400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr6:33359000-33360400	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr6:33359000-33360400	Active TSS	Fetal Kidney	kidney
32	chr6:33359000-33360400	Active TSS	Hela-S3	cervix
33	chr6:33359000-33360800	Active TSS	Colon Smooth Muscle	Colon
34	chr6:33359000-33361000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:33359000-33361200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:33359000-33361200	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr6:33359000-33361200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:33359000-33362000	Active TSS	HSMM	muscle
39	chr6:33359000-33362600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:33359200-33360000	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr6:33359200-33360000	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr6:33359200-33360000	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr6:33359200-33360000	Enhancers	Fetal Brain Male	brain
44	chr6:33359200-33360000	Active TSS	Fetal Stomach	stomach
45	chr6:33359200-33360000	Active TSS	Fetal Thymus	thymus
46	chr6:33359200-33360000	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr6:33359200-33360200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:33359200-33360200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:33359200-33360200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:33359200-33360200	Active TSS	HMEC	breast

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