Variant report

Variant	rs17215210
Chromosome Location	chr6:33239479-33239480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:504)
CpG islands
(count:244)
Chromatin interactive
region (count:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33239279-33239519	A549	lung:	n/a	n/a
2	POLR2A	chr6:33238834-33246727	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:33238760-33241532	GM12891	blood:	n/a	n/a
4	SIX5	chr6:33239273-33239958	GM12878	blood:	n/a	n/a
5	RFX5	chr6:33239435-33240102	K562	blood:	n/a	n/a
6	POLR2A	chr6:33238829-33246424	HepG2	liver:	n/a	n/a
7	STAT5A	chr6:33239036-33240368	GM12878	blood:	n/a	n/a
8	SMC3	chr6:33239064-33240256	HepG2	liver:	n/a	n/a
9	SRF	chr6:33239085-33240190	MCF-7	breast:	n/a	n/a
10	YY1	chr6:33239324-33239595	K562	blood:	n/a	chr6:33239424-33239444
11	MXI1	chr6:33239258-33240386	Hela-S3	cervix:	n/a	n/a
12	MAZ	chr6:33239275-33240106	Hela-S3	cervix:	n/a	n/a
13	PML	chr6:33238698-33243154	GM12878	blood:	n/a	n/a
14	POU2F2	chr6:33239086-33240138	GM12891	blood:	n/a	n/a
15	REST	chr6:33239004-33240250	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr6:33238876-33241752	HepG2	liver:	n/a	n/a
17	MAX	chr6:33239133-33240515	MCF-7	breast:	n/a	n/a
18	POLR2A	chr6:33239112-33240405	U87	brain:	n/a	n/a
19	POLR2A	chr6:33238771-33246916	GM12891	blood:	n/a	n/a
20	SPI1	chr6:33239438-33239976	K562	blood:	n/a	n/a
21	REST	chr6:33238939-33240421	HL-60	blood:	n/a	n/a
22	FOXP2	chr6:33239166-33239550	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr6:33238929-33240238	GM15510	blood:	n/a	n/a
24	GABPA	chr6:33238784-33240356	A549	lung:	n/a	n/a
25	CEBPD	chr6:33239015-33240685	K562	blood:	n/a	n/a
26	MXI1	chr6:33238746-33241055	IMR90	lung:	n/a	n/a
27	ELK4	chr6:33239164-33240075	HEK293	kidney:	n/a	chr6:33239713-33239724
28	TCF12	chr6:33238761-33240321	A549	lung:	n/a	n/a
29	POLR2A	chr6:33238903-33241409	GM12891	blood:	n/a	n/a
30	POLR2A	chr6:33239090-33241526	ECC-1	luminal epithelium:	n/a	n/a
31	TAF1	chr6:33239143-33240319	MCF-7	breast:	n/a	n/a
32	YY1	chr6:33238890-33240287	K562	blood:	n/a	chr6:33239424-33239444
33	POU2F2	chr6:33239162-33240125	GM12878	blood:	n/a	n/a
34	E2F6	chr6:33239222-33240186	A549	lung:	n/a	n/a
35	SPI1	chr6:33239315-33240008	GM12891	blood:	n/a	n/a
36	POLR2A	chr6:33238864-33240991	HCT-116	colon:	n/a	n/a
37	RELA	chr6:33238876-33240243	GM19193	blood:	n/a	n/a
38	CEBPB	chr6:33239205-33240192	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr6:33238743-33246473	GM12892	blood:	n/a	n/a
40	KAP1	chr6:33238902-33240334	HEK293	kidney:	n/a	n/a
41	ELF1	chr6:33239244-33240033	A549	lung:	n/a	n/a
42	ETS1	chr6:33239111-33240447	K562	blood:	n/a	chr6:33239840-33239850 chr6:33239842-33239851
43	GABPA	chr6:33239071-33240187	Hela-S3	cervix:	n/a	n/a
44	TBL1XR1	chr6:33238847-33241192	K562	blood:	n/a	n/a
45	MAX	chr6:33239226-33239575	K562	blood:	n/a	n/a
46	MAX	chr6:33239144-33240338	SK-N-SH	brain:	n/a	n/a
47	NRF1	chr6:33238999-33240069	GM12878	blood:	n/a	n/a
48	MAX	chr6:33239121-33240248	H1-hESC	embryonic stem cell:	n/a	n/a
49	TEAD4	chr6:33238694-33241455	K562	blood:	n/a	n/a
50	MYC	chr6:33238842-33240651	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33239457-33239507	HCF	heart:	n/a
2	chr6:33239457-33239507	AG10803	skin:	n/a
3	chr6:33239443-33239493	PFSK-1	brain:	n/a
4	chr6:33239446-33239496	SKMC	muscle:	n/a
5	chr6:33239457-33239507	PANC-1	pancreas:	n/a
6	chr6:33239446-33239496	GM12892	blood:	n/a
7	chr6:33239443-33239493	HEEpiC	esophagus:	n/a
8	chr6:33239438-33239488	SK-N-SH_RA	brain:	n/a
9	chr6:33239457-33239507	AG09309	skin:	n/a
10	chr6:33239443-33239493	RPTEC	kidney:	n/a
11	chr6:33239443-33239493	MCF10A-Er-Src	breast:	n/a
12	chr6:33239446-33239496	NHBE	bronchial:	n/a
13	chr6:33239443-33239493	GM19239	blood:	n/a
14	chr6:33239443-33239493	HUVEC	blood vessel:	n/a
15	chr6:33239446-33239496	T-47D	breast:	n/a
16	chr6:33239457-33239507	HCT-116	colon:	n/a
17	chr6:33239438-33239488	HNPCEpiC	eye:	n/a
18	chr6:33239457-33239507	NHBE	bronchial:	n/a
19	chr6:33239438-33239488	GM12891	blood:	n/a
20	chr6:33239438-33239488	HCF	heart:	n/a
21	chr6:33239446-33239496	ovcar-3	ovarian:	n/a
22	chr6:33239438-33239488	T-47D	breast:	n/a
23	chr6:33239438-33239488	PFSK-1	brain:	n/a
24	chr6:33239446-33239496	GM06990	blood:	n/a
25	chr6:33239438-33239488	GM12892	blood:	n/a
26	chr6:33239443-33239493	ECC-1	luminal epithelium:	n/a
27	chr6:33239443-33239493	HRPEpiC	eye:	n/a
28	chr6:33239438-33239488	HepG2	liver:	n/a
29	chr6:33239446-33239496	H1-hESC	embryonic stem cell:	embryo
30	chr6:33239457-33239507	HPAEpiC	pulmonary alveolar:	n/a
31	chr6:33239457-33239507	CMK	blood:	n/a
32	chr6:33239443-33239493	Hela-S3	cervix:	n/a
33	chr6:33239446-33239496	Caco-2	colon:	n/a
34	chr6:33239438-33239488	SKMC	muscle:	n/a
35	chr6:33239443-33239493	AG09309	skin:	n/a
36	chr6:33239446-33239496	SK-N-MC	brain:	n/a
37	chr6:33239438-33239488	MCF10A-Er-Src	breast:	n/a
38	chr6:33239457-33239507	HEK293	kidney:	embryo
39	chr6:33239446-33239496	ProgFib	skin:	n/a
40	chr6:33239446-33239496	AG10803	skin:	n/a
41	chr6:33239438-33239488	HCPEpiC	choroid plexus:	n/a
42	chr6:33239438-33239488	AoSMC	blood vessel:	n/a
43	chr6:33239443-33239493	HAEpiC	amniotic membrane:	n/a
44	chr6:33239438-33239488	PrEC	prostate:	n/a
45	chr6:33239438-33239488	H1-hESC	embryonic stem cell:	embryo
46	chr6:33239438-33239488	ECC-1	luminal epithelium:	n/a
47	chr6:33239457-33239507	MCF-7	breast:	n/a
48	chr6:33239457-33239507	A549	lung:	n/a
49	chr6:33239446-33239496	MCF10A-Er-Src	breast:	n/a
50	chr6:33239457-33239507	HRE	kidney:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33215556..33218937-chr6:33237888..33241355,8	MCF-7	breast:
2	chr6:33214775..33224346-chr6:33236521..33248678,40	K562	blood:
3	chr15:85923719..85924400-chr6:33239158..33239888,2	Hela-S3	cervix:
4	chr6:33163540..33178083-chr6:33236797..33246926,29	MCF-7	breast:
5	chr16:67514866..67515459-chr6:33238999..33239994,2	NB4	blood:
6	chr6:33239253..33239873-chr6:33266778..33267558,2	Hela-S3	cervix:
7	chr3:47554676..47555364-chr6:33239440..33240331,2	HCT-116	colon:
8	chr6:33239039..33242495-chr6:33357243..33362134,5	MCF-7	breast:
9	chr6:32935365..32941512-chr6:33237253..33242856,9	MCF-7	breast:
10	chr6:33237079..33247876-chr6:33369927..33381738,26	K562	blood:
11	chr17:36830597..36831565-chr6:33239016..33239859,2	HCT-116	colon:
12	chr6:32942493..32944074-chr6:33239373..33240940,2	K562	blood:
13	chr6:33239392..33240337-chr6:139695212..139695901,2	HCT-116	colon:
14	chr16:4524103..4524755-chr6:33239241..33240005,2	Hela-S3	cervix:
15	chr17:15902723..15903444-chr6:33239440..33240262,2	Hela-S3	cervix:
16	chr1:144533798..144534678-chr6:33239455..33240159,2	Hela-S3	cervix:
17	chr11:62608796..62609637-chr6:33239236..33240116,4	Hela-S3	cervix:
18	chr6:33238090..33243099-chr6:33279379..33286881,12	MCF-7	breast:
19	chr6:33239271..33241277-chr6:33383669..33386403,3	MCF-7	breast:
20	chr6:33168190..33170625-chr6:33239125..33244589,6	MCF-7	breast:
21	chr6:32942574..32944407-chr6:33239254..33240873,2	K562	blood:
22	chr6:33165702..33182742-chr6:33234718..33250379,54	K562	blood:
23	chr6:33237732..33247113-chr6:33390735..33401356,31	K562	blood:
24	chr12:57913836..57914343-chr6:33239424..33240233,2	Hela-S3	cervix:
25	chr3:195808781..195809452-chr6:33239324..33239934,2	HCT-116	colon:
26	chr6:33238428..33241280-chr6:33357854..33362793,6	MCF-7	breast:
27	chr6:33237157..33241221-chr6:33375922..33380109,6	MCF-7	breast:
28	chr6:33237639..33241732-chr6:33383253..33390116,11	K562	blood:
29	chr6:33215322..33223570-chr6:33237379..33242085,16	MCF-7	breast:
30	chr6:33237328..33248026-chr6:33370896..33379989,29	K562	blood:
31	chr6:33238401..33240913-chr6:33381042..33383923,3	MCF-7	breast:
32	chr6:33164650..33184503-chr6:33230350..33245922,64	K562	blood:
33	chr6:33238587..33240368-chr6:33290664..33293261,2	MCF-7	breast:
34	chr6:33238561..33240428-chr6:33421904..33423704,2	K562	blood:
35	chr6:32934872..32941448-chr6:33236243..33241295,9	MCF-7	breast:
36	chr6:33237283..33247485-chr6:33356185..33362256,17	K562	blood:
37	chr6:32935501..32940970-chr6:33237778..33241596,10	K562	blood:
38	chr6:32819661..32822280-chr6:33238410..33240981,2	MCF-7	breast:
39	chr6:33173334..33178624-chr6:33237900..33241664,7	MCF-7	breast:
40	chr6:33237283..33241357-chr6:33358017..33360541,6	K562	blood:
41	chr6:33237802..33241730-chr6:33382199..33389112,10	K562	blood:
42	chr6:32933888..32938246-chr6:33239158..33241596,4	K562	blood:
43	chr13:91999607..92001112-chr6:33239163..33241434,2	K562	blood:

No data

Variant related genes	Relation type
VPS52	TF binding region
RPS18	TF binding region
VPS52	CpG island
RPS18	CpG island
ENSG00000159720	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000204227	Chromatin interaction
ENSG00000179294	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000112514	Chromatin interaction
ENSG00000072274	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000240065	Chromatin interaction
ENSG00000168394	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000103415	Chromatin interaction
ENSG00000204257	Chromatin interaction
ENSG00000153406	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000199036	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000225463	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000163832	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000170776	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000263756	Chromatin interaction
ENSG00000164442	Chromatin interaction
ENSG00000011295	Chromatin interaction
ENSG00000232940	Chromatin interaction
ENSG00000197283	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000270049	Chromatin interaction
ENSG00000204228	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000202441	Chromatin interaction
ENSG00000237441	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17215196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17221597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17221611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41266713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41266737	0.90[AFR][1000 genomes]
rs463302	0.82[AFR][1000 genomes]
rs6902176	0.86[AFR][1000 genomes]
rs72654476	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72654477	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462893	chr6:33142539-33256471	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv602830	chr6:33142539-33256471	Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
4	nsv462894	chr6:33174783-33254665	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
5	nsv602831	chr6:33174783-33254665	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
6	nsv5249	chr6:33231743-33249478	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	62 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33238200-33240600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:33238400-33240000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:33238400-33240200	Active TSS	K562	blood
4	chr6:33238400-33240400	Active TSS	Hela-S3	cervix
5	chr6:33238600-33239600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr6:33238600-33240000	Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr6:33238600-33240200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:33238600-33240200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:33238600-33240400	Active TSS	HSMM	muscle
10	chr6:33238600-33241800	Active TSS	GM12878-XiMat	blood
11	chr6:33238800-33239600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:33238800-33239800	ZNF genes & repeats	Fetal Brain Male	brain
13	chr6:33238800-33240200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:33238800-33240200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr6:33238800-33240200	Active TSS	A549	lung
16	chr6:33238800-33240400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:33238800-33240400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:33238800-33240400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:33238800-33240400	Active TSS	Aorta	Aorta
20	chr6:33238800-33240400	Active TSS	Small Intestine	intestine
21	chr6:33238800-33240600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr6:33238800-33240600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:33238800-33240600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:33238800-33240600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:33238800-33240600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr6:33238800-33240600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:33238800-33240600	Active TSS	Fetal Muscle Trunk	muscle
28	chr6:33238800-33240600	Active TSS	Left Ventricle	heart
29	chr6:33238800-33240600	Active TSS	Psoas Muscle	Psoas
30	chr6:33238800-33240600	Active TSS	NHLF	lung
31	chr6:33238800-33240800	Active TSS	Ovary	ovary
32	chr6:33238800-33241200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:33238800-33241200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:33238800-33241200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:33238800-33241200	Active TSS	Lung	lung
36	chr6:33238800-33241200	Active TSS	Pancreas	Pancrea
37	chr6:33238800-33241200	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr6:33238800-33241400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr6:33238800-33241400	Active TSS	Right Atrium	heart
40	chr6:33238800-33241800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:33238800-33244800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:33239000-33240000	Active TSS	Brain Angular Gyrus	brain
43	chr6:33239000-33240000	Active TSS	Brain Germinal Matrix	brain
44	chr6:33239000-33240000	Active TSS	Dnd41	blood
45	chr6:33239000-33240000	Active TSS	NHEK	skin
46	chr6:33239000-33240200	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr6:33239000-33240200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:33239000-33240200	Active TSS	Colon Smooth Muscle	Colon
49	chr6:33239000-33240200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr6:33239000-33240200	Active TSS	Fetal Brain Female	brain

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