Variant report

Variant	rs35505648
Chromosome Location	chr1:211310251-211310252
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	chr1:211310251-211310301	SK-N-MC	brain:	n/a
2	chr1:211310251-211310301	AoSMC	blood vessel:	n/a
3	chr1:211310251-211310301	HEK293	kidney:	embryo
4	chr1:211310251-211310301	ovcar-3	ovarian:	n/a
5	chr1:211310251-211310301	HIPEpiC	eye:	n/a
6	chr1:211310251-211310301	Hela-S3	cervix:	n/a
7	chr1:211310251-211310301	HepG2	liver:	n/a
8	chr1:211310251-211310301	GM19239	blood:	n/a
9	chr1:211310251-211310301	PANC-1	pancreas:	n/a
10	chr1:211310251-211310301	T-47D	breast:	n/a
11	chr1:211310251-211310301	ECC-1	luminal epithelium:	n/a
12	chr1:211310251-211310301	AG04449	skin:	fetal
13	chr1:211310251-211310301	LNCaP	prostate:	n/a
14	chr1:211310251-211310301	NH-A	brain:	n/a
15	chr1:211310251-211310301	PrEC	prostate:	n/a
16	chr1:211310251-211310301	HUVEC	blood vessel:	n/a
17	chr1:211310251-211310301	SK-N-SH	brain:	n/a
18	chr1:211310251-211310301	HEEpiC	esophagus:	n/a
19	chr1:211310251-211310301	NB4	blood:	n/a
20	chr1:211310251-211310301	GM12891	blood:	n/a
21	chr1:211310251-211310301	HCT-116	colon:	n/a
22	chr1:211310251-211310301	GM06990	blood:	n/a
23	chr1:211310251-211310301	MCF-7	breast:	n/a
24	chr1:211310251-211310301	BJ	skin:	n/a
25	chr1:211310251-211310301	IMR90	lung:	fetal
26	chr1:211310251-211310301	HCM	heart:	n/a
27	chr1:211310251-211310301	NHBE	bronchial:	n/a
28	chr1:211310251-211310301	H1-hESC	embryonic stem cell:	embryo
29	chr1:211310251-211310301	NT2-D1	testis:	n/a
30	chr1:211310251-211310301	BE2_C	brain:	n/a
31	chr1:211310251-211310301	SKMC	muscle:	n/a
32	chr1:211310251-211310301	Jurkat	blood:	n/a
33	chr1:211310251-211310301	HL-60	blood:	n/a
34	chr1:211310251-211310301	Hepatocyte	liver:	n/a
35	chr1:211310251-211310301	Caco-2	colon:	n/a
36	chr1:211310251-211310301	GM12878	blood:	n/a
37	chr1:211310251-211310301	PFSK-1	brain:	n/a
38	chr1:211310251-211310301	RPTEC	kidney:	n/a
39	chr1:211310251-211310301	HCF	heart:	n/a
40	chr1:211310251-211310301	A549	lung:	n/a
41	chr1:211310251-211310301	SK-N-SH_RA	brain:	n/a
42	chr1:211310251-211310301	HRE	kidney:	n/a
43	chr1:211310251-211310301	AG04450	lung:	fetal
44	chr1:211310251-211310301	ProgFib	skin:	n/a
45	chr1:211310251-211310301	HMEC	breast:	n/a
46	chr1:211310251-211310301	K562	blood:	n/a
47	chr1:211310251-211310301	HAEpiC	amniotic membrane:	n/a
48	chr1:211310251-211310301	HRPEpiC	eye:	n/a
49	chr1:211310251-211310301	HRCEpiC	kidney:	n/a
50	chr1:211310251-211310301	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:211308948..211310585-chr1:211431441..211433238,2	MCF-7	breast:
2	chr1:211309431..211311307-chr1:211318380..211321302,3	K562	blood:
3	chr1:210617470..210620137-chr1:211308701..211310289,2	MCF-7	breast:
4	chr1:210545399..210547663-chr1:211308907..211310460,2	MCF-7	breast:
5	chr1:210572567..210575023-chr1:211309974..211312335,2	MCF-7	breast:

No data

Variant related genes	Relation type
KCNH1	CpG island
KCNH1-IT1	CpG island
ENSG00000200972	Chromatin interaction
ENSG00000117625	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12568832	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12749443	0.91[ASN][1000 genomes]
rs12758791	0.92[ASN][1000 genomes]
rs17017239	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2185069	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34210258	0.80[ASN][1000 genomes]
rs35835736	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3811394	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4951720	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4951725	0.94[ASN][1000 genomes]
rs4951727	0.91[ASN][1000 genomes]
rs867847	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs867848	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211309000-211310400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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