Variant report

Variant	rs56270681
Chromosome Location	chr6:30031456-30031457
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:1)
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	chr6:30031455-30031505	NHBE	bronchial:	n/a
2	chr6:30031455-30031505	HMEC	breast:	n/a
3	chr6:30031455-30031505	ECC-1	luminal epithelium:	n/a
4	chr6:30031455-30031505	LNCaP	prostate:	n/a
5	chr6:30031455-30031505	ProgFib	skin:	n/a
6	chr6:30031455-30031505	H1-hESC	embryonic stem cell:	embryo
7	chr6:30031455-30031505	HL-60	blood:	n/a
8	chr6:30031455-30031505	HEK293	kidney:	embryo
9	chr6:30031455-30031505	GM12891	blood:	n/a
10	chr6:30031455-30031505	HRPEpiC	eye:	n/a
11	chr6:30031455-30031505	HUVEC	blood vessel:	n/a
12	chr6:30031455-30031505	AG10803	skin:	n/a
13	chr6:30031455-30031505	Jurkat	blood:	n/a
14	chr6:30031455-30031505	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:30031455-30031505	HCPEpiC	choroid plexus:	n/a
16	chr6:30031455-30031505	HNPCEpiC	eye:	n/a
17	chr6:30031455-30031505	BE2_C	brain:	n/a
18	chr6:30031455-30031505	AG09309	skin:	n/a
19	chr6:30031455-30031505	AG04450	lung:	fetal
20	chr6:30031455-30031505	HCM	heart:	n/a
21	chr6:30031455-30031505	NHDF-neo	bronchial:	n/a
22	chr6:30031455-30031505	PrEC	prostate:	n/a
23	chr6:30031455-30031505	U87	brain:	n/a
24	chr6:30031455-30031505	AoSMC	blood vessel:	n/a
25	chr6:30031455-30031505	ovcar-3	ovarian:	n/a
26	chr6:30031455-30031505	HAEpiC	amniotic membrane:	n/a
27	chr6:30031455-30031505	PANC-1	pancreas:	n/a
28	chr6:30031455-30031505	SK-N-MC	brain:	n/a
29	chr6:30031455-30031505	IMR90	lung:	fetal
30	chr6:30031455-30031505	SKMC	muscle:	n/a
31	chr6:30031455-30031505	GM12892	blood:	n/a
32	chr6:30031455-30031505	NT2-D1	testis:	n/a
33	chr6:30031455-30031505	SAEC	small airway:	n/a
34	chr6:30031455-30031505	HRCEpiC	kidney:	n/a
35	chr6:30031455-30031505	NB4	blood:	n/a
36	chr6:30031455-30031505	K562	blood:	n/a
37	chr6:30031455-30031505	MCF-7	breast:	n/a
38	chr6:30031455-30031505	GM12878	blood:	n/a
39	chr6:30031455-30031505	AG04449	skin:	fetal
40	chr6:30031455-30031505	A549	lung:	n/a
41	chr6:30031455-30031505	Hepatocyte	liver:	n/a
42	chr6:30031455-30031505	HCT-116	colon:	n/a
43	chr6:30031455-30031505	RPTEC	kidney:	n/a
44	chr6:30031455-30031505	T-47D	breast:	n/a
45	chr6:30031455-30031505	HCF	heart:	n/a
46	chr6:30031455-30031505	NH-A	brain:	n/a
47	chr6:30031455-30031505	HIPEpiC	eye:	n/a
48	chr6:30031455-30031505	AG09319	gingival:	n/a
49	chr6:30031455-30031505	HepG2	liver:	n/a
50	chr6:30031455-30031505	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30012267..30014068-chr6:30030146..30031737,2	K562	blood:

No data

Variant related genes	Relation type
PPP1R11	CpG island
ZNRD1-AS1	CpG island

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10484549	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16896851	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16896923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16896970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17179992	1.00[AFR][1000 genomes]
rs17180093	1.00[AFR][1000 genomes]
rs17180107	1.00[AFR][1000 genomes]
rs17180227	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17180836	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17186566	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17187693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17193696	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17194467	1.00[AFR][1000 genomes]
rs2275854	0.82[ASN][1000 genomes]
rs2286404	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2394249	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2893999	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34823152	1.00[AFR][1000 genomes]
rs3823368	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3869062	1.00[AFR][1000 genomes]
rs55664658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55808509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55897388	1.00[AFR][1000 genomes]
rs55975201	1.00[AFR][1000 genomes]
rs56052321	1.00[AFR][1000 genomes]
rs56073777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56149225	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56181708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56185319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56232426	1.00[AFR][1000 genomes]
rs56289102	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56369124	1.00[AFR][1000 genomes]
rs56378970	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57969034	0.81[ASN][1000 genomes]
rs58161072	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60774507	0.81[ASN][1000 genomes]
rs62388660	1.00[AFR][1000 genomes]
rs62388661	1.00[AFR][1000 genomes]
rs62388723	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62388749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62388750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62388751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62388752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62388754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62388755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62388756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62388757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390553	1.00[AFR][1000 genomes]
rs62390555	1.00[AFR][1000 genomes]
rs62392214	1.00[AFR][1000 genomes]
rs62392216	1.00[AFR][1000 genomes]
rs7453937	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30030000-30033600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:30030000-30034200	Weak transcription	Left Ventricle	heart
3	chr6:30030000-30034200	Weak transcription	Ovary	ovary
4	chr6:30030200-30031600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:30030200-30031600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr6:30030200-30031600	Enhancers	GM12878-XiMat	blood
7	chr6:30030200-30031600	Weak transcription	NHDF-Ad	bronchial
8	chr6:30030200-30031800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:30030200-30031800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr6:30030200-30032000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:30030200-30033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:30030200-30033400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:30030200-30033600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:30030200-30033600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:30030200-30033600	Weak transcription	Brain Angular Gyrus	brain
16	chr6:30030200-30033600	Weak transcription	Brain Anterior Caudate	brain
17	chr6:30030200-30033600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:30030200-30033600	Weak transcription	Brain Germinal Matrix	brain
19	chr6:30030200-30033600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:30030200-30033600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:30030200-30033600	Weak transcription	Brain Substantia Nigra	brain
22	chr6:30030200-30033600	Weak transcription	Fetal Heart	heart
23	chr6:30030200-30033600	Weak transcription	Fetal Stomach	stomach
24	chr6:30030200-30033600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:30030200-30033600	Weak transcription	A549	lung
26	chr6:30030200-30033800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:30030200-30033800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:30030200-30033800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:30030200-30033800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:30030200-30033800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:30030200-30033800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:30030200-30033800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:30030200-30033800	Weak transcription	Adipose Nuclei	Adipose
34	chr6:30030200-30033800	Weak transcription	Colonic Mucosa	Colon
35	chr6:30030200-30033800	Weak transcription	Pancreas	Pancrea
36	chr6:30030200-30033800	Weak transcription	Psoas Muscle	Psoas
37	chr6:30030200-30033800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:30030200-30033800	Weak transcription	Right Atrium	heart
39	chr6:30030200-30033800	Weak transcription	Right Ventricle	heart
40	chr6:30030200-30033800	Weak transcription	HSMMtube	muscle
41	chr6:30030200-30034000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:30030200-30034000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:30030200-30034000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:30030200-30034000	Weak transcription	Aorta	Aorta
45	chr6:30030200-30034200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:30030200-30034200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:30030200-30034200	Weak transcription	Lung	lung
48	chr6:30030200-30034400	Weak transcription	Spleen	Spleen
49	chr6:30030400-30031600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:30030400-30031600	Enhancers	Primary T cells from cord blood	blood

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