Variant report

Variant	rs60175539
Chromosome Location	chr6:167370636-167370637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:186)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:186 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr6:167370535-167371111	GM12878	blood:	n/a	n/a
2	STAT3	chr6:167370616-167370945	MCF10A-Er-Src	breast:	n/a	chr6:167370673-167370684
3	MAX	chr6:167369461-167370734	ECC-1	luminal epithelium:	n/a	n/a
4	YY1	chr6:167369513-167371558	HepG2	liver:	n/a	chr6:167370099-167370108 chr6:167369776-167369785 chr6:167371353-167371365 chr6:167369773-167369782
5	CTCF	chr6:167370600-167370750	GM12871	blood:	n/a	chr6:167370718-167370731
6	NFIC	chr6:167369930-167372152	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:167369802-167372163	HepG2	liver:	n/a	n/a
8	MXI1	chr6:167368808-167371038	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr6:167370620-167370770	GM12866	blood:	n/a	chr6:167370718-167370731
10	POLR2A	chr6:167369525-167371253	K562	blood:	n/a	n/a
11	FOSL2	chr6:167369802-167371143	HepG2	liver:	n/a	n/a
12	NFIC	chr6:167369776-167372186	HepG2	liver:	n/a	n/a
13	ZMIZ1	chr6:167370631-167371384	K562	blood:	n/a	n/a
14	NR2F2	chr6:167369989-167370784	K562	blood:	n/a	n/a
15	MYBL2	chr6:167369501-167372122	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:167368638-167371430	GM12892	blood:	n/a	n/a
17	CTCF	chr6:167370560-167370710	NHDF-neo	bronchial:	n/a	n/a
18	TBL1XR1	chr6:167369889-167370802	K562	blood:	n/a	n/a
19	ZNF263	chr6:167368679-167371080	HEK293-T-REx	kidney:	n/a	n/a
20	POLR2A	chr6:167370611-167371488	GM12891	blood:	n/a	n/a
21	CREB1	chr6:167369344-167371588	HepG2	liver:	n/a	n/a
22	RCOR1	chr6:167370050-167371444	HepG2	liver:	n/a	n/a
23	ELF1	chr6:167368614-167371195	GM12878	blood:	n/a	chr6:167369742-167369753 chr6:167369776-167369785 chr6:167369863-167369875 chr6:167370741-167370750 chr6:167368958-167368969 chr6:167370740-167370751 chr6:167370740-167370751 chr6:167369743-167369752 chr6:167369479-167369491
24	POLR2A	chr6:167370022-167371644	HepG2	liver:	n/a	n/a
25	RCOR1	chr6:167369611-167371386	K562	blood:	n/a	n/a
26	MYC	chr6:167370619-167370734	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:167368639-167371572	GM18505	blood:	n/a	n/a
28	MAX	chr6:167368501-167371864	HepG2	liver:	n/a	chr6:167369457-167369467
29	POLR2A	chr6:167369574-167371193	HepG2	liver:	n/a	n/a
30	JUND	chr6:167370565-167371033	HepG2	liver:	n/a	n/a
31	BHLHE40	chr6:167369817-167371960	GM12878	blood:	n/a	chr6:167370180-167370196
32	POLR2A	chr6:167369386-167371259	K562	blood:	n/a	n/a
33	FOXM1	chr6:167370269-167371280	GM12878	blood:	n/a	n/a
34	HCFC1	chr6:167369754-167371159	K562	blood:	n/a	n/a
35	MAX	chr6:167369385-167370699	A549	lung:	n/a	chr6:167369457-167369467
36	TAF1	chr6:167369486-167371168	HepG2	liver:	n/a	n/a
37	POLR2A	chr6:167369496-167371190	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:167368732-167371266	NB4	blood:	n/a	n/a
39	E2F6	chr6:167369422-167370784	H1-hESC	embryonic stem cell:	n/a	chr6:167369773-167369782 chr6:167370244-167370254 chr6:167370261-167370268 chr6:167370255-167370262 chr6:167370261-167370268 chr6:167370242-167370251 chr6:167370261-167370268
40	MAX	chr6:167369444-167370639	H1-hESC	embryonic stem cell:	n/a	chr6:167369457-167369467
41	SIN3AK20	chr6:167369562-167370685	MCF-7	breast:	n/a	n/a
42	POLR2A	chr6:167369786-167371207	GM10847	blood:	n/a	n/a
43	TCF12	chr6:167369519-167370801	ECC-1	luminal epithelium:	n/a	chr6:167369696-167369703
44	PML	chr6:167369626-167371501	GM12878	blood:	n/a	n/a
45	CTCF	chr6:167370620-167370770	BJ	skin:	n/a	chr6:167370718-167370731
46	POLR2A	chr6:167370484-167371412	K562	blood:	n/a	n/a
47	TAF1	chr6:167369460-167371141	HepG2	liver:	n/a	n/a
48	CBX3	chr6:167370635-167371282	K562	blood:	n/a	n/a
49	EP300	chr6:167370594-167371279	K562	blood:	n/a	chr6:167370715-167370731 chr6:167370743-167370750
50	POLR2A	chr6:167370391-167370672	GM12891	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:167370587-167370637	NHBE	bronchial:	n/a
2	chr6:167370587-167370637	SK-N-SH_RA	brain:	n/a
3	chr6:167370587-167370637	Caco-2	colon:	n/a
4	chr6:167370587-167370637	HCM	heart:	n/a
5	chr6:167370587-167370637	Jurkat	blood:	n/a
6	chr6:167370587-167370637	AG04450	lung:	fetal
7	chr6:167370587-167370637	HL-60	blood:	n/a
8	chr6:167370587-167370637	SKMC	muscle:	n/a
9	chr6:167370587-167370637	HNPCEpiC	eye:	n/a
10	chr6:167370587-167370637	GM19239	blood:	n/a
11	chr6:167370587-167370637	HRE	kidney:	n/a
12	chr6:167370587-167370637	AG09309	skin:	n/a
13	chr6:167370587-167370637	GM12878	blood:	n/a
14	chr6:167370587-167370637	LNCaP	prostate:	n/a
15	chr6:167370587-167370637	NB4	blood:	n/a
16	chr6:167370587-167370637	HMEC	breast:	n/a
17	chr6:167370587-167370637	HEK293	kidney:	embryo
18	chr6:167370587-167370637	HCT-116	colon:	n/a
19	chr6:167370587-167370637	U87	brain:	n/a
20	chr6:167370587-167370637	NHDF-neo	bronchial:	n/a
21	chr6:167370587-167370637	HIPEpiC	eye:	n/a
22	chr6:167370587-167370637	ECC-1	luminal epithelium:	n/a
23	chr6:167370587-167370637	Hela-S3	cervix:	n/a
24	chr6:167370587-167370637	AG10803	skin:	n/a
25	chr6:167370587-167370637	AoSMC	blood vessel:	n/a
26	chr6:167370587-167370637	T-47D	breast:	n/a
27	chr6:167370587-167370637	A549	lung:	n/a
28	chr6:167370587-167370637	NH-A	brain:	n/a
29	chr6:167370587-167370637	HepG2	liver:	n/a
30	chr6:167370587-167370637	H1-hESC	embryonic stem cell:	embryo
31	chr6:167370587-167370637	Hepatocyte	liver:	n/a
32	chr6:167370587-167370637	AG04449	skin:	fetal
33	chr6:167370587-167370637	HEEpiC	esophagus:	n/a
34	chr6:167370587-167370637	NT2-D1	testis:	n/a
35	chr6:167370587-167370637	HCF	heart:	n/a
36	chr6:167370587-167370637	GM06990	blood:	n/a
37	chr6:167370587-167370637	PANC-1	pancreas:	n/a
38	chr6:167370587-167370637	MCF10A-Er-Src	breast:	n/a
39	chr6:167370587-167370637	IMR90	lung:	fetal
40	chr6:167370587-167370637	HRPEpiC	eye:	n/a
41	chr6:167370587-167370637	SAEC	small airway:	n/a
42	chr6:167370587-167370637	MCF-7	breast:	n/a
43	chr6:167370587-167370637	HPAEpiC	pulmonary alveolar:	n/a
44	chr6:167370587-167370637	HCPEpiC	choroid plexus:	n/a
45	chr6:167370587-167370637	PrEC	prostate:	n/a
46	chr6:167370587-167370637	AG09319	gingival:	n/a
47	chr6:167370587-167370637	GM12891	blood:	n/a
48	chr6:167370587-167370637	SK-N-SH	brain:	n/a
49	chr6:167370587-167370637	ovcar-3	ovarian:	n/a
50	chr6:167370587-167370637	HAEpiC	amniotic membrane:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:167369620..167371640-chr6:167412068..167415220,3	K562	blood:
2	chr6:167364990..167367805-chr6:167369090..167372947,3	K562	blood:
3	chr6:167368436..167372370-chr6:167409956..167415121,7	MCF-7	breast:
4	chr6:167368335..167372073-chr6:167409735..167414257,6	K562	blood:
5	chr6:167368539..167373039-chr6:167409933..167412837,4	MCF-7	breast:
6	chr6:167370155..167372073-chr6:167409744..167411701,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASET2-2	chr6:167370437-167370679	NONHSAT116063

No data

Variant related genes	Relation type
ENSG00000249141	TF binding region
RNASET2	TF binding region
RNASET2	CpG island
ENSG00000249141	CpG island
ENSG00000026297	Chromatin interaction
ENSG00000227598	Chromatin interaction
ENSG00000213066	Chromatin interaction
ENSG00000272980	Chromatin interaction
ENSG00000265828	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs16899790	1.00[EUR][1000 genomes]
rs16899815	1.00[EUR][1000 genomes]
rs1776	1.00[EUR][1000 genomes]
rs2145959	1.00[EUR][1000 genomes]
rs34544438	1.00[EUR][1000 genomes]
rs35517174	1.00[EUR][1000 genomes]
rs3756831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57179541	1.00[AMR][1000 genomes]
rs57277468	1.00[AMR][1000 genomes]
rs57450712	1.00[EUR][1000 genomes]
rs58474231	1.00[AMR][1000 genomes]
rs59100209	1.00[EUR][1000 genomes]
rs60277858	1.00[AMR][1000 genomes]
rs60567158	1.00[AMR][1000 genomes]
rs61387345	1.00[EUR][1000 genomes]
rs61602553	1.00[EUR][1000 genomes]
rs61712256	1.00[EUR][1000 genomes]
rs6456135	1.00[EUR][1000 genomes]
rs6456142	1.00[EUR][1000 genomes]
rs6456144	1.00[EUR][1000 genomes]
rs6456147	1.00[EUR][1000 genomes]
rs6899812	1.00[EUR][1000 genomes]
rs6909065	1.00[AMR][1000 genomes]
rs6910428	1.00[AMR][1000 genomes]
rs6911828	1.00[AMR][1000 genomes]
rs6914819	1.00[AMR][1000 genomes]
rs6916629	1.00[EUR][1000 genomes]
rs6919642	1.00[AMR][1000 genomes]
rs6919742	1.00[EUR][1000 genomes]
rs6920058	1.00[EUR][1000 genomes]
rs6920393	1.00[EUR][1000 genomes]
rs6922982	1.00[AMR][1000 genomes]
rs6924611	1.00[EUR][1000 genomes]
rs6933595	1.00[EUR][1000 genomes]
rs6937475	1.00[AMR][1000 genomes]
rs6938521	1.00[EUR][1000 genomes]
rs73254674	1.00[EUR][1000 genomes]
rs73788178	1.00[AMR][1000 genomes]
rs73788179	1.00[AMR][1000 genomes]
rs73788180	1.00[AMR][1000 genomes]
rs73788182	1.00[EUR][1000 genomes]
rs73788183	1.00[AMR][1000 genomes]
rs73788185	1.00[AMR][1000 genomes]
rs73788186	1.00[AMR][1000 genomes]
rs73788187	1.00[AMR][1000 genomes]
rs73788200	1.00[EUR][1000 genomes]
rs7741161	1.00[EUR][1000 genomes]
rs7752309	1.00[AMR][1000 genomes]
rs7753939	1.00[EUR][1000 genomes]
rs7761960	1.00[AMR][1000 genomes]
rs7762305	1.00[EUR][1000 genomes]
rs7764064	1.00[EUR][1000 genomes]
rs7767708	1.00[AMR][1000 genomes]
rs7775401	1.00[EUR][1000 genomes]
rs7775499	1.00[EUR][1000 genomes]
rs7775521	1.00[EUR][1000 genomes]
rs7776428	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv1034359	chr6:167359643-167384714	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription	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	chr6:167367200-167372000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr6:167368200-167370800	Active TSS	Primary T cells from cord blood	blood
3	chr6:167368400-167371000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:167368600-167370800	Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr6:167368600-167370800	Active TSS	Small Intestine	intestine
6	chr6:167368600-167371000	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr6:167368600-167371200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:167368600-167371400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr6:167368600-167371400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:167368800-167370800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:167368800-167370800	Active TSS	Hela-S3	cervix
12	chr6:167368800-167371000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr6:167368800-167371000	Active TSS	Fetal Intestine Large	intestine
14	chr6:167368800-167371200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr6:167368800-167371200	Active TSS	HSMM	muscle
16	chr6:167369000-167370800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr6:167369000-167370800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:167369000-167370800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr6:167369000-167370800	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr6:167369000-167371000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr6:167369000-167371000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:167369000-167371000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr6:167369000-167371000	Active TSS	NHDF-Ad	bronchial
24	chr6:167369000-167371200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:167369000-167371400	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr6:167369200-167370800	Active TSS	Aorta	Aorta
27	chr6:167369200-167370800	Active TSS	Esophagus	oesophagus
28	chr6:167369200-167370800	Active TSS	Fetal Lung	lung
29	chr6:167369200-167370800	Active TSS	Pancreas	Pancrea
30	chr6:167369200-167370800	Active TSS	Spleen	Spleen
31	chr6:167369200-167370800	Active TSS	A549	lung
32	chr6:167369200-167371000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:167369200-167371000	Active TSS	Ovary	ovary
34	chr6:167369200-167371000	Active TSS	Psoas Muscle	Psoas
35	chr6:167369200-167371000	Active TSS	Stomach Mucosa	stomach
36	chr6:167369200-167371200	Active TSS	Left Ventricle	heart
37	chr6:167369200-167371200	Active TSS	Right Atrium	heart
38	chr6:167369400-167370800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:167369400-167370800	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr6:167369400-167370800	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr6:167369400-167370800	Active TSS	Brain Cingulate Gyrus	brain
42	chr6:167369400-167370800	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr6:167369400-167370800	Active TSS	Fetal Brain Female	brain
44	chr6:167369400-167370800	Active TSS	HSMMtube	muscle
45	chr6:167369400-167371000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr6:167369400-167371000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr6:167369400-167371000	Active TSS	Rectal Smooth Muscle	rectum
48	chr6:167369400-167371000	Active TSS	Thymus	Thymus
49	chr6:167369400-167371000	Active TSS	K562	blood
50	chr6:167369400-167371200	Active TSS	Brain Angular Gyrus	brain

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