Variant report

Variant	rs72502529
Chromosome Location	chr6:30449674-30449675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr6:30449666-30450319	K562	blood:	n/a	n/a
2	RAD21	chr6:30449650-30450220	HepG2	liver:	n/a	chr6:30450017-30450031
3	MAZ	chr6:30449478-30450378	IMR90	lung:	n/a	chr6:30450282-30450291
4	PML	chr6:30449659-30450177	GM12878	blood:	n/a	chr6:30449995-30450003
5	ZNF263	chr6:30449657-30450160	HEK293-T-REx	kidney:	n/a	chr6:30449681-30449690
6	CTCF	chr6:30449600-30449750	HMEC	breast:	n/a	n/a
7	RAD21	chr6:30449622-30450174	HCT-116	colon:	n/a	chr6:30450017-30450031
8	CTCF	chr6:30449580-30449730	GM12878	blood:	n/a	n/a
9	CTCF	chr6:30448729-30450259	SK-N-SH	brain:	n/a	chr6:30449066-30449082 chr6:30449226-30449235 chr6:30449067-30449080 chr6:30449344-30449352
10	CTCF	chr6:30449620-30449770	AG09309	skin:	n/a	n/a
11	CTCF	chr6:30449584-30450371	A549	lung:	n/a	n/a
12	CTCF	chr6:30449440-30449710	HVMF	connective:	n/a	n/a
13	RAD21	chr6:30449655-30450150	HCT-116	colon:	n/a	chr6:30450017-30450031
14	CTCF	chr6:30449620-30449770	RPTEC	kidney:	n/a	n/a
15	RAD21	chr6:30449606-30450253	SK-N-SH	brain:	n/a	chr6:30450017-30450031
16	CTCF	chr6:30449580-30449730	HA-sp	spinal cord:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30449637-30449687	RPTEC	kidney:	n/a
2	chr6:30449637-30449687	Caco-2	colon:	n/a
3	chr6:30449637-30449687	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:30449637-30449687	T-47D	breast:	n/a
5	chr6:30449637-30449687	HCF	heart:	n/a
6	chr6:30449637-30449687	BJ	skin:	n/a
7	chr6:30449637-30449687	AG04450	lung:	fetal
8	chr6:30449637-30449687	ECC-1	luminal epithelium:	n/a
9	chr6:30449637-30449687	Hela-S3	cervix:	n/a
10	chr6:30449637-30449687	HEK293	kidney:	embryo
11	chr6:30449637-30449687	HRE	kidney:	n/a
12	chr6:30449637-30449687	PANC-1	pancreas:	n/a
13	chr6:30449637-30449687	LNCaP	prostate:	n/a
14	chr6:30449637-30449687	Hepatocyte	liver:	n/a
15	chr6:30449637-30449687	NB4	blood:	n/a
16	chr6:30449637-30449687	HRPEpiC	eye:	n/a
17	chr6:30449637-30449687	GM12892	blood:	n/a
18	chr6:30449637-30449687	HMEC	breast:	n/a
19	chr6:30449637-30449687	PFSK-1	brain:	n/a
20	chr6:30449637-30449687	HEEpiC	esophagus:	n/a
21	chr6:30449637-30449687	K562	blood:	n/a
22	chr6:30449637-30449687	GM19239	blood:	n/a
23	chr6:30449637-30449687	SK-N-SH_RA	brain:	n/a
24	chr6:30449637-30449687	HRCEpiC	kidney:	n/a
25	chr6:30449637-30449687	SK-N-SH	brain:	n/a
26	chr6:30449637-30449687	SKMC	muscle:	n/a
27	chr6:30449637-30449687	A549	lung:	n/a
28	chr6:30449637-30449687	ProgFib	skin:	n/a
29	chr6:30449637-30449687	CMK	blood:	n/a
30	chr6:30449637-30449687	NHDF-neo	bronchial:	n/a
31	chr6:30449637-30449687	GM12891	blood:	n/a
32	chr6:30449637-30449687	GM12878	blood:	n/a
33	chr6:30449637-30449687	HepG2	liver:	n/a
34	chr6:30449637-30449687	AG10803	skin:	n/a
35	chr6:30449637-30449687	HL-60	blood:	n/a
36	chr6:30449637-30449687	NHBE	bronchial:	n/a
37	chr6:30449637-30449687	NT2-D1	testis:	n/a
38	chr6:30449637-30449687	IMR90	lung:	fetal
39	chr6:30449637-30449687	ovcar-3	ovarian:	n/a
40	chr6:30449637-30449687	MCF-7	breast:	n/a
41	chr6:30449637-30449687	PrEC	prostate:	n/a
42	chr6:30449637-30449687	HUVEC	blood vessel:	n/a
43	chr6:30449637-30449687	AoSMC	blood vessel:	n/a
44	chr6:30449637-30449687	Jurkat	blood:	n/a
45	chr6:30449637-30449687	BE2_C	brain:	n/a
46	chr6:30449637-30449687	GM06990	blood:	n/a
47	chr6:30449637-30449687	HCT-116	colon:	n/a
48	chr6:30449637-30449687	HCM	heart:	n/a
49	chr6:30449637-30449687	AG04449	skin:	fetal
50	chr6:30449637-30449687	SAEC	small airway:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30449567..30450580-chr6:30512209..30513100,5	MCF-7	breast:
2	chr6:30449627..30450458-chr6:30640495..30641401,4	MCF-7	breast:
3	chr6:30448465..30450230-chr6:30522710..30525074,2	K562	blood:
4	chr6:30420870..30422111-chr6:30449570..30450171,8	MCF-7	breast:
5	chr6:30449517..30450048-chr6:30565344..30566246,2	K562	blood:
6	chr6:30447631..30450065-chr6:30691817..30695001,3	K562	blood:
7	chr6:30421088..30422240-chr6:30449570..30450644,10	MCF-7	breast:
8	chr6:30422351..30425241-chr6:30448232..30450888,2	MCF-7	breast:
9	chr6:30449301..30451388-chr6:30582216..30584322,2	K562	blood:
10	chr6:30449539..30450477-chr6:30508895..30509868,3	K562	blood:
11	chr6:30420842..30422110-chr6:30449567..30450229,10	K562	blood:
12	chr6:30449528..30450530-chr6:31054967..31055991,4	K562	blood:
13	chr6:30446384..30451689-chr6:30578094..30585004,12	MCF-7	breast:
14	chr6:30448715..30451618-chr6:30508372..30511107,3	MCF-7	breast:
15	chr6:30449554..30450473-chr6:30638194..30639125,2	K562	blood:
16	chr6:30448170..30453321-chr6:30582822..30586539,6	K562	blood:
17	chr6:30449369..30451271-chr6:30688942..30690860,2	MCF-7	breast:
18	chr6:30447949..30451648-chr6:30569801..30572499,4	MCF-7	breast:

No data

Variant related genes	Relation type
RANP1	TF binding region
RANP1	CpG island
ENSG00000204569	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204568	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11758575	0.93[ASN][1000 genomes]
rs61748658	1.00[ASN][1000 genomes]
rs72502527	0.93[ASN][1000 genomes]
rs72502528	0.93[ASN][1000 genomes]
rs72502530	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	nsv884069	chr6:30430875-30451474	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
7	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
8	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30447800-30450200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:30448000-30449800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
3	chr6:30448000-30450000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
4	chr6:30448000-30450200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:30448000-30450200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
6	chr6:30448000-30450200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:30448200-30450000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:30448200-30450000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
9	chr6:30448200-30450000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
10	chr6:30448200-30450000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
11	chr6:30448200-30450000	Bivalent Enhancer	Fetal Thymus	thymus
12	chr6:30448200-30450000	Bivalent Enhancer	GM12878-XiMat	blood
13	chr6:30448200-30450200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:30448200-30450400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr6:30448400-30449800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr6:30448400-30449800	Bivalent Enhancer	HUVEC	blood vessel
17	chr6:30448400-30450000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:30448400-30450000	Bivalent Enhancer	Primary B cells from cord blood	blood
19	chr6:30448400-30450000	Enhancers	Spleen	Spleen
20	chr6:30448400-30450000	Bivalent Enhancer	HMEC	breast
21	chr6:30448400-30450400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr6:30448600-30449800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:30448600-30450000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
24	chr6:30448800-30449800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr6:30448800-30450000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr6:30448800-30450000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr6:30448800-30450000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:30448800-30450200	Bivalent Enhancer	Fetal Stomach	stomach
29	chr6:30449000-30450000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr6:30449000-30450000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:30449000-30450000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr6:30449000-30450000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr6:30449000-30450000	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr6:30449000-30450200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr6:30449000-30450200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:30449200-30449800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
37	chr6:30449200-30450000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:30449200-30450000	Enhancers	Liver	Liver
39	chr6:30449200-30450000	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr6:30449200-30450000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr6:30449200-30450000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
42	chr6:30449400-30449800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:30449400-30449800	Bivalent Enhancer	Primary T cells from cord blood	blood
44	chr6:30449400-30450000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr6:30449400-30450000	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr6:30449600-30449800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr6:30449600-30449800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:30449600-30449800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:30449600-30449800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:30449600-30449800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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