Variant report

Variant	rs2021731
Chromosome Location	chr6:30104597-30104598
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr6:30104371-30104733	GM12878	blood:	n/a	n/a
2	RUNX3	chr6:30104208-30104850	GM12878	blood:	n/a	n/a
3	RUNX3	chr6:30104337-30104806	GM12878	blood:	n/a	n/a
4	NFIC	chr6:30104259-30104759	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30104552-30104602	HRPEpiC	eye:	n/a
2	chr6:30104593-30104643	BJ	skin:	n/a
3	chr6:30104552-30104602	Jurkat	blood:	n/a
4	chr6:30104552-30104602	H1-hESC	embryonic stem cell:	embryo
5	chr6:30104593-30104643	RPTEC	kidney:	n/a
6	chr6:30104593-30104643	PANC-1	pancreas:	n/a
7	chr6:30104552-30104602	HEEpiC	esophagus:	n/a
8	chr6:30104593-30104643	SKMC	muscle:	n/a
9	chr6:30104593-30104643	SK-N-SH_RA	brain:	n/a
10	chr6:30104552-30104602	AG04450	lung:	fetal
11	chr6:30104552-30104602	GM12891	blood:	n/a
12	chr6:30104552-30104602	HCF	heart:	n/a
13	chr6:30104552-30104602	T-47D	breast:	n/a
14	chr6:30104593-30104643	HMEC	breast:	n/a
15	chr6:30104552-30104602	NT2-D1	testis:	n/a
16	chr6:30104593-30104643	Jurkat	blood:	n/a
17	chr6:30104593-30104643	CMK	blood:	n/a
18	chr6:30104552-30104602	HPAEpiC	pulmonary alveolar:	n/a
19	chr6:30104593-30104643	HRPEpiC	eye:	n/a
20	chr6:30104552-30104602	PFSK-1	brain:	n/a
21	chr6:30104552-30104602	ovcar-3	ovarian:	n/a
22	chr6:30104552-30104602	Hepatocyte	liver:	n/a
23	chr6:30104593-30104643	HRCEpiC	kidney:	n/a
24	chr6:30104593-30104643	ProgFib	skin:	n/a
25	chr6:30104552-30104602	HRCEpiC	kidney:	n/a
26	chr6:30104552-30104602	NHBE	bronchial:	n/a
27	chr6:30104593-30104643	HepG2	liver:	n/a
28	chr6:30104552-30104602	NHDF-neo	bronchial:	n/a
29	chr6:30104593-30104643	HCPEpiC	choroid plexus:	n/a
30	chr6:30104593-30104643	AG04450	lung:	fetal
31	chr6:30104552-30104602	BE2_C	brain:	n/a
32	chr6:30104593-30104643	GM12878	blood:	n/a
33	chr6:30104552-30104602	PrEC	prostate:	n/a
34	chr6:30104552-30104602	A549	lung:	n/a
35	chr6:30104552-30104602	AG09319	gingival:	n/a
36	chr6:30104552-30104602	HCPEpiC	choroid plexus:	n/a
37	chr6:30104552-30104602	MCF-7	breast:	n/a
38	chr6:30104593-30104643	AoSMC	blood vessel:	n/a
39	chr6:30104593-30104643	HEK293	kidney:	embryo
40	chr6:30104593-30104643	A549	lung:	n/a
41	chr6:30104593-30104643	PFSK-1	brain:	n/a
42	chr6:30104552-30104602	HCT-116	colon:	n/a
43	chr6:30104593-30104643	MCF10A-Er-Src	breast:	n/a
44	chr6:30104552-30104602	GM06990	blood:	n/a
45	chr6:30104593-30104643	AG04449	skin:	fetal
46	chr6:30104593-30104643	NB4	blood:	n/a
47	chr6:30104593-30104643	HNPCEpiC	eye:	n/a
48	chr6:30104593-30104643	NT2-D1	testis:	n/a
49	chr6:30104552-30104602	RPTEC	kidney:	n/a
50	chr6:30104552-30104602	K562	blood:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30028084..30030840-chr6:30103303..30105686,3	MCF-7	breast:
2	chr6:30097580..30101195-chr6:30103058..30105479,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM15-1	chr6:30104510-30104975	NONHSAT108605

No data

Variant related genes	Relation type
TRIM40	TF binding region
ENSG00000252228	TF binding region
TRIM40	CpG island
ENSG00000252228	CpG island
ENSG00000066379	Chromatin interaction
ENSG00000252228	Chromatin interaction
ENSG00000204623	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1123966	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1419675	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1967	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2021723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107195	0.89[EUR][1000 genomes]
rs2107202	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2244066	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2257914	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2517591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2517593	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523733	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2523734	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2523974	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523995	0.82[EUR][1000 genomes]
rs2844798	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30101800-30105000	Enhancers	Fetal Intestine Large	intestine
2	chr6:30103400-30104600	Enhancers	Colonic Mucosa	Colon
3	chr6:30103600-30104800	Enhancers	GM12878-XiMat	blood
4	chr6:30103800-30105000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:30103800-30105000	Enhancers	Small Intestine	intestine
6	chr6:30103800-30105400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:30103800-30105400	Enhancers	HepG2	liver
8	chr6:30103800-30107400	Active TSS	Placenta	Placenta
9	chr6:30104000-30104600	Active TSS	Duodenum Mucosa	Duodenum
10	chr6:30104000-30104800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:30104000-30104800	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr6:30104200-30104600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:30104200-30104600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr6:30104200-30104800	Enhancers	Primary hematopoietic stem cells	blood
15	chr6:30104200-30106400	Weak transcription	Stomach Mucosa	stomach
16	chr6:30104400-30104800	Enhancers	Rectal Mucosa Donor 29	rectum

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