Variant report

Variant	rs762324
Chromosome Location	chr6:30455886-30455887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:183)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr6:30455288-30458992	SK-N-SH	brain:	n/a	chr6:30457227-30457236 chr6:30458544-30458552

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30455846-30455896	H1-hESC	embryonic stem cell:	embryo
2	chr6:30455885-30455935	HUVEC	blood vessel:	n/a
3	chr6:30455858-30455908	PFSK-1	brain:	n/a
4	chr6:30455885-30455935	GM06990	blood:	n/a
5	chr6:30455846-30455896	GM12878	blood:	n/a
6	chr6:30455885-30455935	ProgFib	skin:	n/a
7	chr6:30455846-30455896	GM12892	blood:	n/a
8	chr6:30455858-30455908	HCPEpiC	choroid plexus:	n/a
9	chr6:30455885-30455935	HEEpiC	esophagus:	n/a
10	chr6:30455885-30455935	HAEpiC	amniotic membrane:	n/a
11	chr6:30455846-30455896	SK-N-SH	brain:	n/a
12	chr6:30455846-30455896	NH-A	brain:	n/a
13	chr6:30455846-30455896	SAEC	small airway:	n/a
14	chr6:30455858-30455908	MCF-7	breast:	n/a
15	chr6:30455846-30455896	HCF	heart:	n/a
16	chr6:30455858-30455908	K562	blood:	n/a
17	chr6:30455858-30455908	NH-A	brain:	n/a
18	chr6:30455858-30455908	SAEC	small airway:	n/a
19	chr6:30455846-30455896	PrEC	prostate:	n/a
20	chr6:30455858-30455908	PANC-1	pancreas:	n/a
21	chr6:30455885-30455935	BE2_C	brain:	n/a
22	chr6:30455858-30455908	ovcar-3	ovarian:	n/a
23	chr6:30455858-30455908	Jurkat	blood:	n/a
24	chr6:30455858-30455908	GM12891	blood:	n/a
25	chr6:30455885-30455935	RPTEC	kidney:	n/a
26	chr6:30455846-30455896	AG04450	lung:	fetal
27	chr6:30455858-30455908	AoSMC	blood vessel:	n/a
28	chr6:30455858-30455908	SK-N-MC	brain:	n/a
29	chr6:30455846-30455896	HL-60	blood:	n/a
30	chr6:30455858-30455908	HCT-116	colon:	n/a
31	chr6:30455858-30455908	ECC-1	luminal epithelium:	n/a
32	chr6:30455846-30455896	HCM	heart:	n/a
33	chr6:30455858-30455908	AG09309	skin:	n/a
34	chr6:30455858-30455908	Hela-S3	cervix:	n/a
35	chr6:30455858-30455908	Caco-2	colon:	n/a
36	chr6:30455858-30455908	T-47D	breast:	n/a
37	chr6:30455846-30455896	AG04449	skin:	fetal
38	chr6:30455846-30455896	ProgFib	skin:	n/a
39	chr6:30455885-30455935	A549	lung:	n/a
40	chr6:30455846-30455896	AG09309	skin:	n/a
41	chr6:30455885-30455935	GM12891	blood:	n/a
42	chr6:30455846-30455896	HUVEC	blood vessel:	n/a
43	chr6:30455858-30455908	IMR90	lung:	fetal
44	chr6:30455885-30455935	H1-hESC	embryonic stem cell:	embryo
45	chr6:30455846-30455896	HPAEpiC	pulmonary alveolar:	n/a
46	chr6:30455846-30455896	NHBE	bronchial:	n/a
47	chr6:30455858-30455908	LNCaP	prostate:	n/a
48	chr6:30455858-30455908	HRPEpiC	eye:	n/a
49	chr6:30455885-30455935	ECC-1	luminal epithelium:	n/a
50	chr6:30455846-30455896	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:30454054..30458400-chr6:30522321..30525971,4	K562	blood:
2	chr6:30455567..30461073-chr6:30522731..30527408,12	MCF-7	breast:
3	chr6:30455790..30458568-chr6:30687436..30691942,4	MCF-7	breast:
4	chr6:30455700..30459615-chr6:30482438..30485842,11	MCF-7	breast:
5	chr6:30451366..30455453-chr6:30455599..30459533,6	K562	blood:
6	chr6:30455560..30457980-chr6:30688126..30690528,2	K562	blood:
7	chr6:30450826..30454342-chr6:30455231..30458641,4	K562	blood:
8	chr6:30452366..30463564-chr6:30577885..30586736,19	MCF-7	breast:
9	chr6:30455629..30458030-chr6:30852314..30855015,2	K562	blood:
10	chr6:30455623..30460789-chr6:30582748..30585313,6	MCF-7	breast:
11	chr6:30455872..30460443-chr6:30482529..30486009,9	K562	blood:
12	chr6:30450929..30459545-chr6:30516289..30528141,20	K562	blood:
13	chr6:30455822..30466395-chr6:30579571..30587610,27	K562	blood:
14	chr6:30455831..30458376-chr6:30599698..30601458,2	MCF-7	breast:
15	chr6:30455852..30458015-chr6:30684660..30687891,3	K562	blood:
16	chr6:30455788..30457645-chr6:30653333..30655352,2	MCF-7	breast:

No data

Variant related genes	Relation type
HLA-E	TF binding region
HLA-E	CpG island
ENSG00000222894	Chromatin interaction
ENSG00000228415	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000236603	Chromatin interaction
ENSG00000146112	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16897572	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17875358	0.81[EUR][1000 genomes]
rs17875360	0.86[EUR][1000 genomes]
rs9380178	0.80[AMR][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	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
6	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
7	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
8	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
9	nsv970103	chr6:30452455-30460072	Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30454000-30456400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:30454200-30456800	Weak transcription	NHEK	skin
3	chr6:30455200-30456800	Enhancers	Fetal Thymus	thymus
4	chr6:30455400-30456200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:30455400-30456200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:30455400-30456600	Enhancers	Primary B cells from peripheral blood	blood
7	chr6:30455400-30456800	Enhancers	Primary T cells from cord blood	blood
8	chr6:30455400-30456800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:30455600-30456000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:30455600-30456000	Enhancers	Primary hematopoietic stem cells	blood
11	chr6:30455600-30456000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:30455600-30456000	Enhancers	GM12878-XiMat	blood
13	chr6:30455600-30456200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:30455600-30456200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr6:30455600-30456200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr6:30455600-30456200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr6:30455600-30456200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr6:30455600-30456400	Enhancers	Primary B cells from cord blood	blood
19	chr6:30455600-30456800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr6:30455800-30456000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr6:30455800-30456000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr6:30455800-30456000	Enhancers	Spleen	Spleen
23	chr6:30455800-30456200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr6:30455800-30457000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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