Variant report

Variant	rs4646920
Chromosome Location	chr6:34853635-34853636
allele	C/T
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:5)
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	chr6:34853620-34853670	AG10803	skin:	n/a
2	chr6:34853620-34853670	HIPEpiC	eye:	n/a
3	chr6:34853620-34853670	A549	lung:	n/a
4	chr6:34853620-34853670	HRE	kidney:	n/a
5	chr6:34853620-34853670	MCF-7	breast:	n/a
6	chr6:34853620-34853670	GM12892	blood:	n/a
7	chr6:34853620-34853670	NH-A	brain:	n/a
8	chr6:34853620-34853670	HCT-116	colon:	n/a
9	chr6:34853620-34853670	BJ	skin:	n/a
10	chr6:34853620-34853670	MCF10A-Er-Src	breast:	n/a
11	chr6:34853620-34853670	AG09319	gingival:	n/a
12	chr6:34853620-34853670	HL-60	blood:	n/a
13	chr6:34853620-34853670	NHDF-neo	bronchial:	n/a
14	chr6:34853620-34853670	HEK293	kidney:	embryo
15	chr6:34853620-34853670	SK-N-MC	brain:	n/a
16	chr6:34853620-34853670	SAEC	small airway:	n/a
17	chr6:34853620-34853670	HNPCEpiC	eye:	n/a
18	chr6:34853620-34853670	BE2_C	brain:	n/a
19	chr6:34853620-34853670	H1-hESC	embryonic stem cell:	embryo
20	chr6:34853620-34853670	HPAEpiC	pulmonary alveolar:	n/a
21	chr6:34853620-34853670	HepG2	liver:	n/a
22	chr6:34853620-34853670	HEEpiC	esophagus:	n/a
23	chr6:34853620-34853670	T-47D	breast:	n/a
24	chr6:34853620-34853670	NT2-D1	testis:	n/a
25	chr6:34853620-34853670	Hepatocyte	liver:	n/a
26	chr6:34853620-34853670	PANC-1	pancreas:	n/a
27	chr6:34853620-34853670	PrEC	prostate:	n/a
28	chr6:34853620-34853670	HUVEC	blood vessel:	n/a
29	chr6:34853620-34853670	SK-N-SH_RA	brain:	n/a
30	chr6:34853620-34853670	PFSK-1	brain:	n/a
31	chr6:34853620-34853670	AoSMC	blood vessel:	n/a
32	chr6:34853620-34853670	SK-N-SH	brain:	n/a
33	chr6:34853620-34853670	AG04450	lung:	fetal
34	chr6:34853620-34853670	CMK	blood:	n/a
35	chr6:34853620-34853670	HRCEpiC	kidney:	n/a
36	chr6:34853620-34853670	IMR90	lung:	fetal
37	chr6:34853620-34853670	AG09309	skin:	n/a
38	chr6:34853620-34853670	GM06990	blood:	n/a
39	chr6:34853620-34853670	GM12878	blood:	n/a
40	chr6:34853620-34853670	NB4	blood:	n/a
41	chr6:34853620-34853670	GM12891	blood:	n/a
42	chr6:34853620-34853670	LNCaP	prostate:	n/a
43	chr6:34853620-34853670	GM19239	blood:	n/a
44	chr6:34853620-34853670	ProgFib	skin:	n/a
45	chr6:34853620-34853670	HMEC	breast:	n/a
46	chr6:34853620-34853670	RPTEC	kidney:	n/a
47	chr6:34853620-34853670	U87	brain:	n/a
48	chr6:34853620-34853670	NHBE	bronchial:	n/a
49	chr6:34853620-34853670	ECC-1	luminal epithelium:	n/a
50	chr6:34853620-34853670	AG04449	skin:	fetal

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34733163..34735637-chr6:34853537..34855573,2	K562	blood:
2	chr6:34853391..34855742-chr6:34918404..34920858,2	K562	blood:
3	chr6:34758735..34762506-chr6:34853024..34858695,7	MCF-7	breast:
4	chr6:34843479..34847323-chr6:34849401..34853884,4	MCF-7	breast:
5	chr6:34853107..34854715-chr6:34857316..34859285,2	MCF-7	breast:

No data

Variant related genes	Relation type
ANKS1A	CpG island
ENSG00000065060	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs13204222	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13215944	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13220916	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16895035	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16895354	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737724	0.81[ASN][1000 genomes]
rs1883639	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34006431	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35057781	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35499928	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35760768	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35786848	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3734259	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3756859	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3800443	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3800448	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800450	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800452	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800453	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3822923	0.95[ASN][1000 genomes]
rs4646919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4646922	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4646941	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56140217	0.83[ASN][1000 genomes]
rs57955553	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58595551	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6907427	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6912229	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6913108	0.94[ASN][1000 genomes]
rs6918498	0.94[ASN][1000 genomes]
rs6927009	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6936820	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6941065	0.97[ASN][1000 genomes]
rs73745049	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73745050	0.98[ASN][1000 genomes]
rs7752468	0.97[ASN][1000 genomes]
rs7755801	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7756122	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs847842	0.88[ASN][1000 genomes]
rs847844	0.83[ASN][1000 genomes]
rs847845	0.80[ASN][1000 genomes]
rs847861	0.80[ASN][1000 genomes]
rs847862	0.90[ASN][1000 genomes]
rs861878	0.90[ASN][1000 genomes]
rs9357185	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9357187	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9366870	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9368835	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368837	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380465	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9380466	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9380467	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380468	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380470	0.98[ASN][1000 genomes]
rs9380476	0.85[ASN][1000 genomes]
rs9394254	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9394255	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394256	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS 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	38 gene(s)	inside rSNPs	diseases
7	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv1028363	chr6:34733071-34859045	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1015792	chr6:34741917-34887316	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1021733	chr6:34751052-34887316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
17	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
18	esv1811041	chr6:34851134-34856501	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a
19	esv1802115	chr6:34852176-34856501	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34820200-34855000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:34821000-34854600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:34830000-34855000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:34835800-34855200	Weak transcription	Small Intestine	intestine
5	chr6:34840800-34854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:34841400-34854600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:34841400-34855200	Weak transcription	Fetal Heart	heart
8	chr6:34841600-34854600	Weak transcription	Fetal Kidney	kidney
9	chr6:34842600-34854800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:34844000-34854000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:34844000-34854800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:34844600-34854600	Weak transcription	Psoas Muscle	Psoas
13	chr6:34845000-34854600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:34845200-34853800	Weak transcription	Fetal Brain Male	brain
15	chr6:34845400-34854600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:34846600-34854600	Weak transcription	HMEC	breast
17	chr6:34847600-34854600	Weak transcription	Right Ventricle	heart
18	chr6:34848000-34854400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:34848000-34854600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:34848000-34854600	Weak transcription	Brain Germinal Matrix	brain
21	chr6:34848000-34854600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:34848000-34854600	Weak transcription	Thymus	Thymus
23	chr6:34848000-34854600	Weak transcription	HSMMtube	muscle
24	chr6:34848000-34854600	Weak transcription	NHLF	lung
25	chr6:34848000-34854800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:34848000-34854800	Weak transcription	Gastric	stomach
27	chr6:34848200-34854000	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:34848200-34854000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:34848200-34854000	Weak transcription	NHEK	skin
30	chr6:34848200-34854400	Weak transcription	Colonic Mucosa	Colon
31	chr6:34848200-34854600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:34848200-34854600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:34848200-34854600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:34848200-34854600	Weak transcription	Brain Angular Gyrus	brain
35	chr6:34848200-34854600	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:34848200-34854600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:34848200-34854600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr6:34848200-34854600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:34848200-34854600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:34848200-34854600	Weak transcription	Spleen	Spleen
41	chr6:34848200-34854600	Weak transcription	A549	lung
42	chr6:34848200-34854800	Weak transcription	Esophagus	oesophagus
43	chr6:34848200-34854800	Weak transcription	Left Ventricle	heart
44	chr6:34848200-34855000	Weak transcription	Aorta	Aorta
45	chr6:34848400-34853800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:34848400-34853800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr6:34848400-34854600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:34848400-34854600	Weak transcription	Primary B cells from cord blood	blood
49	chr6:34848400-34854600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:34848400-34854600	Weak transcription	Colon Smooth Muscle	Colon

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