Variant report

Variant	rs6657146
Chromosome Location	chr1:151019290-151019291
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:8)
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	chr1:151019274-151019324	PANC-1	pancreas:	n/a
2	chr1:151019274-151019324	SKMC	muscle:	n/a
3	chr1:151019274-151019324	HCM	heart:	n/a
4	chr1:151019274-151019324	NH-A	brain:	n/a
5	chr1:151019274-151019324	GM12891	blood:	n/a
6	chr1:151019274-151019324	Hela-S3	cervix:	n/a
7	chr1:151019274-151019324	BJ	skin:	n/a
8	chr1:151019274-151019324	HMEC	breast:	n/a
9	chr1:151019274-151019324	HRCEpiC	kidney:	n/a
10	chr1:151019274-151019324	IMR90	lung:	fetal
11	chr1:151019274-151019324	CMK	blood:	n/a
12	chr1:151019274-151019324	AG04450	lung:	fetal
13	chr1:151019274-151019324	LNCaP	prostate:	n/a
14	chr1:151019274-151019324	HEK293	kidney:	embryo
15	chr1:151019274-151019324	MCF-7	breast:	n/a
16	chr1:151019274-151019324	A549	lung:	n/a
17	chr1:151019274-151019324	NHDF-neo	bronchial:	n/a
18	chr1:151019274-151019324	AG09319	gingival:	n/a
19	chr1:151019274-151019324	GM12892	blood:	n/a
20	chr1:151019274-151019324	MCF10A-Er-Src	breast:	n/a
21	chr1:151019274-151019324	HepG2	liver:	n/a
22	chr1:151019274-151019324	HUVEC	blood vessel:	n/a
23	chr1:151019274-151019324	GM06990	blood:	n/a
24	chr1:151019274-151019324	PrEC	prostate:	n/a
25	chr1:151019274-151019324	ProgFib	skin:	n/a
26	chr1:151019274-151019324	HPAEpiC	pulmonary alveolar:	n/a
27	chr1:151019274-151019324	HNPCEpiC	eye:	n/a
28	chr1:151019274-151019324	AoSMC	blood vessel:	n/a
29	chr1:151019274-151019324	HCF	heart:	n/a
30	chr1:151019274-151019324	Caco-2	colon:	n/a
31	chr1:151019274-151019324	Jurkat	blood:	n/a
32	chr1:151019274-151019324	GM19239	blood:	n/a
33	chr1:151019274-151019324	HRPEpiC	eye:	n/a
34	chr1:151019274-151019324	AG09309	skin:	n/a
35	chr1:151019274-151019324	T-47D	breast:	n/a
36	chr1:151019274-151019324	U87	brain:	n/a
37	chr1:151019274-151019324	HCPEpiC	choroid plexus:	n/a
38	chr1:151019274-151019324	SAEC	small airway:	n/a
39	chr1:151019274-151019324	HAEpiC	amniotic membrane:	n/a
40	chr1:151019274-151019324	BE2_C	brain:	n/a
41	chr1:151019274-151019324	ECC-1	luminal epithelium:	n/a
42	chr1:151019274-151019324	NHBE	bronchial:	n/a
43	chr1:151019274-151019324	Hepatocyte	liver:	n/a
44	chr1:151019274-151019324	K562	blood:	n/a
45	chr1:151019274-151019324	SK-N-SH	brain:	n/a
46	chr1:151019274-151019324	RPTEC	kidney:	n/a
47	chr1:151019274-151019324	AG04449	skin:	fetal
48	chr1:151019274-151019324	HEEpiC	esophagus:	n/a
49	chr1:151019274-151019324	ovcar-3	ovarian:	n/a
50	chr1:151019274-151019324	HRE	kidney:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150979769..150983967-chr1:151018069..151024059,8	MCF-7	breast:
2	chr1:151019258..151021349-chr6:16128728..16130592,2	MCF-7	breast:
3	chr1:151008538..151012828-chr1:151019200..151022428,4	K562	blood:
4	chr1:150995615..151002939-chr1:151018225..151024612,15	MCF-7	breast:
5	chr1:150974834..150982774-chr1:151014282..151023779,19	MCF-7	breast:
6	chr1:150977224..150980859-chr1:151016149..151020552,4	K562	blood:
7	chr1:151019236..151020800-chr1:151137402..151139572,2	K562	blood:
8	chr1:150943913..150947004-chr1:151018258..151022109,4	MCF-7	breast:

No data

Variant related genes	Relation type
C1orf56	CpG island
ENSG00000143418	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000007944	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000231073	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000163141	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11800088	1.00[AMR][1000 genomes]
rs11800715	1.00[AMR][1000 genomes]
rs11804061	1.00[AMR][1000 genomes]
rs11804474	1.00[AMR][1000 genomes]
rs11806302	1.00[AMR][1000 genomes]
rs11809569	1.00[AMR][1000 genomes]
rs11809979	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs11811310	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs16832965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832968	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832988	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833008	1.00[AMR][1000 genomes]
rs16833052	0.83[MKK][hapmap];1.00[AMR][1000 genomes]
rs16833054	1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs16833100	1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs16833109	1.00[AMR][1000 genomes]
rs34570433	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41445244	0.85[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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150997600-151019800	Weak transcription	HUVEC	blood vessel
2	chr1:150997800-151019800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:151000000-151019800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:151000000-151019800	Weak transcription	NHLF	lung
5	chr1:151000200-151019800	Weak transcription	Small Intestine	intestine
6	chr1:151003800-151019800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:151004400-151019800	Weak transcription	Fetal Kidney	kidney
8	chr1:151006800-151019800	Weak transcription	Gastric	stomach
9	chr1:151006800-151019800	Weak transcription	HepG2	liver
10	chr1:151007000-151019600	Weak transcription	Colonic Mucosa	Colon
11	chr1:151007200-151019800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:151007200-151019800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:151007400-151019600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:151007400-151019800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:151007400-151019800	Weak transcription	Brain Angular Gyrus	brain
16	chr1:151007400-151019800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:151007600-151019600	Weak transcription	Fetal Brain Male	brain
18	chr1:151008000-151019400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:151008000-151019600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:151008000-151019600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:151008000-151019600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:151008000-151019600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:151008000-151019600	Weak transcription	A549	lung
24	chr1:151008000-151019600	Weak transcription	Osteobl	bone
25	chr1:151008000-151019800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:151008000-151019800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:151008000-151019800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:151008000-151019800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:151008000-151019800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:151008000-151019800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:151008000-151019800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:151008000-151019800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:151008000-151019800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:151008000-151019800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:151008000-151019800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:151008000-151019800	Weak transcription	Brain Germinal Matrix	brain
37	chr1:151008000-151019800	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:151008000-151019800	Weak transcription	Fetal Lung	lung
39	chr1:151008000-151019800	Weak transcription	Ovary	ovary
40	chr1:151008000-151019800	Weak transcription	Pancreas	Pancrea
41	chr1:151008000-151019800	Weak transcription	Psoas Muscle	Psoas
42	chr1:151008000-151019800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:151008000-151019800	Weak transcription	Thymus	Thymus
44	chr1:151008000-151020000	Weak transcription	Aorta	Aorta
45	chr1:151008000-151020000	Weak transcription	Left Ventricle	heart
46	chr1:151008000-151020000	Weak transcription	Right Ventricle	heart
47	chr1:151008000-151020200	Weak transcription	Lung	lung
48	chr1:151008200-151019600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:151008200-151019600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:151008200-151019800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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