Variant report

Variant	rs9468683
Chromosome Location	chr6:30045114-30045115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30045068-30045118	PrEC	prostate:	n/a
2	chr6:30045068-30045118	HNPCEpiC	eye:	n/a
3	chr6:30045068-30045118	Jurkat	blood:	n/a
4	chr6:30045068-30045118	HepG2	liver:	n/a
5	chr6:30045068-30045118	HCF	heart:	n/a
6	chr6:30045068-30045118	BJ	skin:	n/a
7	chr6:30045068-30045118	IMR90	lung:	fetal
8	chr6:30045068-30045118	T-47D	breast:	n/a
9	chr6:30045068-30045118	AG04449	skin:	fetal
10	chr6:30045068-30045118	HCM	heart:	n/a
11	chr6:30045068-30045118	SK-N-SH	brain:	n/a
12	chr6:30045068-30045118	PFSK-1	brain:	n/a
13	chr6:30045068-30045118	NHDF-neo	bronchial:	n/a
14	chr6:30045068-30045118	A549	lung:	n/a
15	chr6:30045068-30045118	HCT-116	colon:	n/a
16	chr6:30045068-30045118	ECC-1	luminal epithelium:	n/a
17	chr6:30045068-30045118	NT2-D1	testis:	n/a
18	chr6:30045068-30045118	GM06990	blood:	n/a
19	chr6:30045068-30045118	HRPEpiC	eye:	n/a
20	chr6:30045068-30045118	HUVEC	blood vessel:	n/a
21	chr6:30045068-30045118	Hepatocyte	liver:	n/a
22	chr6:30045068-30045118	AG10803	skin:	n/a
23	chr6:30045068-30045118	MCF10A-Er-Src	breast:	n/a
24	chr6:30045068-30045118	GM12878	blood:	n/a
25	chr6:30045068-30045118	AG04450	lung:	fetal
26	chr6:30045068-30045118	NH-A	brain:	n/a
27	chr6:30045068-30045118	LNCaP	prostate:	n/a
28	chr6:30045068-30045118	NB4	blood:	n/a
29	chr6:30045068-30045118	GM12892	blood:	n/a
30	chr6:30045068-30045118	AG09319	gingival:	n/a
31	chr6:30045068-30045118	AoSMC	blood vessel:	n/a
32	chr6:30045068-30045118	GM19239	blood:	n/a
33	chr6:30045068-30045118	HAEpiC	amniotic membrane:	n/a
34	chr6:30045068-30045118	H1-hESC	embryonic stem cell:	embryo
35	chr6:30045068-30045118	NHBE	bronchial:	n/a
36	chr6:30045068-30045118	SK-N-MC	brain:	n/a
37	chr6:30045068-30045118	U87	brain:	n/a
38	chr6:30045068-30045118	SAEC	small airway:	n/a
39	chr6:30045068-30045118	Caco-2	colon:	n/a
40	chr6:30045068-30045118	RPTEC	kidney:	n/a
41	chr6:30045068-30045118	HRCEpiC	kidney:	n/a
42	chr6:30045068-30045118	AG09309	skin:	n/a
43	chr6:30045068-30045118	HIPEpiC	eye:	n/a
44	chr6:30045068-30045118	MCF-7	breast:	n/a
45	chr6:30045068-30045118	BE2_C	brain:	n/a
46	chr6:30045068-30045118	HL-60	blood:	n/a
47	chr6:30045068-30045118	HMEC	breast:	n/a
48	chr6:30045068-30045118	GM12891	blood:	n/a
49	chr6:30045068-30045118	K562	blood:	n/a
50	chr6:30045068-30045118	HEK293	kidney:	embryo

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30027015..30030813-chr6:30040823..30045193,4	K562	blood:
2	chr6:30041669..30045289-chr6:30052962..30056751,3	MCF-7	breast:
3	chr6:30044585..30046967-chr6:30097709..30100269,2	MCF-7	breast:
4	chr6:30044892..30047064-chr6:30055499..30057098,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF39	CpG island
ENSG00000066379	Chromatin interaction
ENSG00000252901	Chromatin interaction
ENSG00000204623	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17194055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28684426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28731260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58154054	0.97[AFR][1000 genomes]
rs60789199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7754777	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7764464	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9260802	0.83[AFR][1000 genomes]
rs9260811	0.83[AFR][1000 genomes]
rs9295827	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9295831	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9295834	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9295835	1.00[AMR][1000 genomes]
rs9461568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9468668	1.00[AMR][1000 genomes]
rs9468669	1.00[AMR][1000 genomes]
rs9468671	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9468678	1.00[AMR][1000 genomes]
rs9468679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9468682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9468687	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9468688	1.00[AMR][1000 genomes]
rs9501012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9501313	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031115	chr6:29934199-30058223	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv538172	chr6:29934199-30058223	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv432866	chr6:30026321-30080921	Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv884049	chr6:30037353-30047403	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30043000-30045800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:30043200-30045800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:30043200-30045800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr6:30043600-30045400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr6:30043600-30045600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:30043600-30045600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:30043800-30045800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:30044200-30045800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr6:30044200-30045800	Bivalent Enhancer	HepG2	liver
10	chr6:30044600-30045800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr6:30044600-30045800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:30044600-30045800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:30044600-30046600	Bivalent Enhancer	Primary T cells from cord blood	blood
14	chr6:30044800-30045200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:30044800-30045800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
16	chr6:30044800-30046400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:30045000-30045200	Flanking Active TSS	Dnd41	blood
18	chr6:30045000-30045400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:30045000-30045600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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