Variant report

Variant	rs668070
Chromosome Location	chr6:4090506-4090507
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: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	chr6:4090480-4090530	HPAEpiC	pulmonary alveolar:	n/a
2	chr6:4090480-4090530	HRCEpiC	kidney:	n/a
3	chr6:4090480-4090530	HMEC	breast:	n/a
4	chr6:4090480-4090530	HCM	heart:	n/a
5	chr6:4090480-4090530	GM19239	blood:	n/a
6	chr6:4090480-4090530	A549	lung:	n/a
7	chr6:4090480-4090530	BE2_C	brain:	n/a
8	chr6:4090480-4090530	AG10803	skin:	n/a
9	chr6:4090480-4090530	NHDF-neo	bronchial:	n/a
10	chr6:4090480-4090530	SKMC	muscle:	n/a
11	chr6:4090480-4090530	PFSK-1	brain:	n/a
12	chr6:4090480-4090530	MCF-7	breast:	n/a
13	chr6:4090480-4090530	HL-60	blood:	n/a
14	chr6:4090480-4090530	HUVEC	blood vessel:	n/a
15	chr6:4090480-4090530	HCT-116	colon:	n/a
16	chr6:4090480-4090530	HCF	heart:	n/a
17	chr6:4090480-4090530	PANC-1	pancreas:	n/a
18	chr6:4090480-4090530	AG09309	skin:	n/a
19	chr6:4090480-4090530	SAEC	small airway:	n/a
20	chr6:4090480-4090530	HIPEpiC	eye:	n/a
21	chr6:4090480-4090530	SK-N-SH_RA	brain:	n/a
22	chr6:4090480-4090530	ProgFib	skin:	n/a
23	chr6:4090480-4090530	AG04449	skin:	fetal
24	chr6:4090480-4090530	GM12892	blood:	n/a
25	chr6:4090480-4090530	MCF10A-Er-Src	breast:	n/a
26	chr6:4090480-4090530	RPTEC	kidney:	n/a
27	chr6:4090480-4090530	ovcar-3	ovarian:	n/a
28	chr6:4090480-4090530	HEEpiC	esophagus:	n/a
29	chr6:4090480-4090530	NH-A	brain:	n/a
30	chr6:4090480-4090530	AG09319	gingival:	n/a
31	chr6:4090480-4090530	Caco-2	colon:	n/a
32	chr6:4090480-4090530	HepG2	liver:	n/a
33	chr6:4090480-4090530	HEK293	kidney:	embryo
34	chr6:4090480-4090530	HCPEpiC	choroid plexus:	n/a
35	chr6:4090480-4090530	LNCaP	prostate:	n/a
36	chr6:4090480-4090530	T-47D	breast:	n/a
37	chr6:4090480-4090530	HAEpiC	amniotic membrane:	n/a
38	chr6:4090480-4090530	AoSMC	blood vessel:	n/a
39	chr6:4090480-4090530	SK-N-MC	brain:	n/a
40	chr6:4090480-4090530	H1-hESC	embryonic stem cell:	embryo
41	chr6:4090480-4090530	U87	brain:	n/a
42	chr6:4090480-4090530	PrEC	prostate:	n/a
43	chr6:4090480-4090530	AG04450	lung:	fetal
44	chr6:4090480-4090530	GM06990	blood:	n/a
45	chr6:4090480-4090530	Hepatocyte	liver:	n/a
46	chr6:4090480-4090530	SK-N-SH	brain:	n/a
47	chr6:4090480-4090530	HRPEpiC	eye:	n/a
48	chr6:4090480-4090530	IMR90	lung:	fetal
49	chr6:4090480-4090530	HNPCEpiC	eye:	n/a
50	chr6:4090480-4090530	NHBE	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4082801..4085618-chr6:4088964..4091515,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM217A	CpG island

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs101418	0.94[ASN][1000 genomes]
rs11755877	0.94[ASN][1000 genomes]
rs1204951	0.96[ASN][1000 genomes]
rs2326408	0.88[ASN][1000 genomes]
rs2473597	0.88[ASN][1000 genomes]
rs2745453	0.88[ASN][1000 genomes]
rs2745455	0.93[ASN][1000 genomes]
rs2783063	0.93[ASN][1000 genomes]
rs2783073	0.88[ASN][1000 genomes]
rs28878015	0.81[ASN][1000 genomes]
rs4959271	0.82[ASN][1000 genomes]
rs582008	0.81[ASN][1000 genomes]
rs583782	0.81[ASN][1000 genomes]
rs583881	0.81[ASN][1000 genomes]
rs584585	0.88[ASN][1000 genomes]
rs588158	0.81[ASN][1000 genomes]
rs589494	0.82[ASN][1000 genomes]
rs590675	0.88[ASN][1000 genomes]
rs592953	0.88[ASN][1000 genomes]
rs593291	0.86[ASN][1000 genomes]
rs594662	0.88[ASN][1000 genomes]
rs595413	0.88[ASN][1000 genomes]
rs608195	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs609946	0.88[ASN][1000 genomes]
rs611500	0.88[ASN][1000 genomes]
rs612022	0.88[ASN][1000 genomes]
rs612477	0.94[ASN][1000 genomes]
rs613028	0.89[ASN][1000 genomes]
rs613260	0.88[ASN][1000 genomes]
rs613709	0.88[ASN][1000 genomes]
rs617604	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs617790	0.88[ASN][1000 genomes]
rs619439	0.88[ASN][1000 genomes]
rs619483	0.94[ASN][1000 genomes]
rs619873	0.88[ASN][1000 genomes]
rs620484	0.88[ASN][1000 genomes]
rs620901	0.89[ASN][1000 genomes]
rs626080	0.89[ASN][1000 genomes]
rs627259	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs629362	0.88[ASN][1000 genomes]
rs633290	0.88[ASN][1000 genomes]
rs634114	0.94[ASN][1000 genomes]
rs634698	0.88[ASN][1000 genomes]
rs634970	0.81[ASN][1000 genomes]
rs638329	0.81[ASN][1000 genomes]
rs639905	0.88[ASN][1000 genomes]
rs643232	0.88[ASN][1000 genomes]
rs648900	0.88[ASN][1000 genomes]
rs649725	0.88[ASN][1000 genomes]
rs651246	0.88[ASN][1000 genomes]
rs653431	0.88[ASN][1000 genomes]
rs654621	0.88[ASN][1000 genomes]
rs654982	0.88[ASN][1000 genomes]
rs659025	0.88[ASN][1000 genomes]
rs659051	0.81[ASN][1000 genomes]
rs659305	0.88[ASN][1000 genomes]
rs660560	0.88[ASN][1000 genomes]
rs660957	0.81[ASN][1000 genomes]
rs661404	0.88[ASN][1000 genomes]
rs661657	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs662834	0.94[ASN][1000 genomes]
rs664299	0.90[ASN][1000 genomes]
rs664635	0.81[ASN][1000 genomes]
rs664839	0.86[ASN][1000 genomes]
rs664898	0.81[ASN][1000 genomes]
rs665728	0.89[ASN][1000 genomes]
rs665894	0.93[ASN][1000 genomes]
rs666254	0.90[ASN][1000 genomes]
rs670932	0.88[ASN][1000 genomes]
rs671364	0.88[ASN][1000 genomes]
rs674543	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs676683	0.88[ASN][1000 genomes]
rs678285	0.81[ASN][1000 genomes]
rs679303	0.81[ASN][1000 genomes]
rs688176	0.86[ASN][1000 genomes]
rs689308	0.88[ASN][1000 genomes]
rs694058	0.81[ASN][1000 genomes]
rs694903	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs707991	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7166	0.88[ASN][1000 genomes]
rs7744628	0.88[ASN][1000 genomes]
rs7756630	0.84[ASN][1000 genomes]
rs7757606	0.88[ASN][1000 genomes]
rs853416	0.88[ASN][1000 genomes]
rs853417	0.88[ASN][1000 genomes]
rs853418	0.81[ASN][1000 genomes]
rs9328220	0.88[ASN][1000 genomes]
rs9378395	0.86[ASN][1000 genomes]
rs9405219	0.93[ASN][1000 genomes]
rs9405701	0.81[ASN][1000 genomes]
rs942475	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv462615	chr6:4052383-4096678	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv600860	chr6:4052383-4096678	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS 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	9 gene(s)	inside rSNPs	diseases
6	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4079400-4092000	Weak transcription	Right Atrium	heart
2	chr6:4088800-4091400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:4089400-4091600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:4089400-4092400	Weak transcription	Pancreas	Pancrea
5	chr6:4089600-4091600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:4089800-4090600	Weak transcription	Fetal Intestine Small	intestine
7	chr6:4089800-4091400	Weak transcription	HepG2	liver
8	chr6:4089800-4091600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:4089800-4092200	Weak transcription	Stomach Mucosa	stomach
10	chr6:4089800-4092800	Weak transcription	Colonic Mucosa	Colon
11	chr6:4090000-4093400	Weak transcription	Fetal Heart	heart
12	chr6:4090200-4090800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:4090400-4090600	Weak transcription	Gastric	stomach

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