Variant report

Variant	rs4897076
Chromosome Location	chr6:149356916-149356917
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	chr6:149356915-149356965	K562	blood:	n/a
2	chr6:149356915-149356965	SK-N-SH_RA	brain:	n/a
3	chr6:149356915-149356965	HCT-116	colon:	n/a
4	chr6:149356915-149356965	GM12878	blood:	n/a
5	chr6:149356915-149356965	AG04450	lung:	fetal
6	chr6:149356915-149356965	Jurkat	blood:	n/a
7	chr6:149356915-149356965	BE2_C	brain:	n/a
8	chr6:149356915-149356965	SKMC	muscle:	n/a
9	chr6:149356915-149356965	ECC-1	luminal epithelium:	n/a
10	chr6:149356915-149356965	AG10803	skin:	n/a
11	chr6:149356915-149356965	NB4	blood:	n/a
12	chr6:149356915-149356965	MCF10A-Er-Src	breast:	n/a
13	chr6:149356915-149356965	HRE	kidney:	n/a
14	chr6:149356915-149356965	GM06990	blood:	n/a
15	chr6:149356915-149356965	CMK	blood:	n/a
16	chr6:149356915-149356965	U87	brain:	n/a
17	chr6:149356915-149356965	SAEC	small airway:	n/a
18	chr6:149356915-149356965	GM19239	blood:	n/a
19	chr6:149356915-149356965	HepG2	liver:	n/a
20	chr6:149356915-149356965	AG09319	gingival:	n/a
21	chr6:149356915-149356965	Caco-2	colon:	n/a
22	chr6:149356915-149356965	HCF	heart:	n/a
23	chr6:149356915-149356965	LNCaP	prostate:	n/a
24	chr6:149356915-149356965	HUVEC	blood vessel:	n/a
25	chr6:149356915-149356965	PANC-1	pancreas:	n/a
26	chr6:149356915-149356965	AG04449	skin:	fetal
27	chr6:149356915-149356965	NT2-D1	testis:	n/a
28	chr6:149356915-149356965	HCPEpiC	choroid plexus:	n/a
29	chr6:149356915-149356965	HEK293	kidney:	embryo
30	chr6:149356915-149356965	A549	lung:	n/a
31	chr6:149356915-149356965	BJ	skin:	n/a
32	chr6:149356915-149356965	RPTEC	kidney:	n/a
33	chr6:149356915-149356965	ProgFib	skin:	n/a
34	chr6:149356915-149356965	HNPCEpiC	eye:	n/a
35	chr6:149356915-149356965	HL-60	blood:	n/a
36	chr6:149356915-149356965	PFSK-1	brain:	n/a
37	chr6:149356915-149356965	HPAEpiC	pulmonary alveolar:	n/a
38	chr6:149356915-149356965	PrEC	prostate:	n/a
39	chr6:149356915-149356965	NH-A	brain:	n/a
40	chr6:149356915-149356965	HCM	heart:	n/a
41	chr6:149356915-149356965	GM12891	blood:	n/a
42	chr6:149356915-149356965	ovcar-3	ovarian:	n/a
43	chr6:149356915-149356965	H1-hESC	embryonic stem cell:	embryo
44	chr6:149356915-149356965	T-47D	breast:	n/a
45	chr6:149356915-149356965	AoSMC	blood vessel:	n/a
46	chr6:149356915-149356965	HEEpiC	esophagus:	n/a
47	chr6:149356915-149356965	HRCEpiC	kidney:	n/a
48	chr6:149356915-149356965	HMEC	breast:	n/a
49	chr6:149356915-149356965	GM12892	blood:	n/a
50	chr6:149356915-149356965	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149356091..149358662-chr6:149380682..149383777,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236591	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10457074	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2275423	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2340751	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2340752	0.92[EUR][1000 genomes]
rs2340801	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2340802	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2879843	0.84[EUR][1000 genomes]
rs4318907	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4377808	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4897074	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6570920	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6904550	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6930989	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6931744	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6936176	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7747463	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7748978	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7765778	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7774457	0.82[EUR][1000 genomes]
rs7774887	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9377187	0.92[EUR][1000 genomes]
rs9377188	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9399678	0.85[AMR][1000 genomes];0.86[EUR][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	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv830842	chr6:149272321-149427340	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149305400-149381400	Weak transcription	Gastric	stomach
2	chr6:149336200-149358000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:149337600-149358000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:149339400-149364600	Weak transcription	Lung	lung
5	chr6:149341000-149365400	Weak transcription	Right Ventricle	heart
6	chr6:149343200-149358000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:149344000-149357200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:149344000-149357400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:149344600-149357800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:149344800-149358000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:149345400-149362000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:149345600-149358000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:149348000-149367400	Weak transcription	Primary B cells from cord blood	blood
14	chr6:149350200-149357600	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:149350400-149358000	Weak transcription	Fetal Kidney	kidney
16	chr6:149353600-149357200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:149353800-149357200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:149353800-149357400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:149353800-149358000	Enhancers	HSMMtube	muscle
20	chr6:149353800-149362400	Weak transcription	Pancreas	Pancrea
21	chr6:149353800-149367400	Weak transcription	Spleen	Spleen
22	chr6:149353800-149367800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:149353800-149369800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:149354000-149357000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:149354000-149358200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:149354000-149358200	Weak transcription	Fetal Thymus	thymus
27	chr6:149354000-149358400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:149354000-149362000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:149354200-149357200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:149354400-149358200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:149354400-149400600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:149354600-149360600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:149354600-149372000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:149354800-149357200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:149354800-149357200	Enhancers	HepG2	liver
36	chr6:149354800-149358200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:149354800-149358200	Enhancers	HSMM	muscle
38	chr6:149354800-149358400	Weak transcription	NHLF	lung
39	chr6:149354800-149365200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:149354800-149366400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr6:149355000-149362400	Weak transcription	Aorta	Aorta
42	chr6:149355200-149357600	Weak transcription	NHDF-Ad	bronchial
43	chr6:149355200-149360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:149355400-149357200	Enhancers	GM12878-XiMat	blood
45	chr6:149355400-149357800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:149355400-149358000	Weak transcription	NH-A	brain
47	chr6:149355600-149361800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:149355800-149357000	Weak transcription	Fetal Lung	lung
49	chr6:149355800-149357200	Weak transcription	Ovary	ovary
50	chr6:149355800-149357400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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