Variant report

Variant	rs11996873
Chromosome Location	chr8:39792279-39792280
allele	C/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:0)
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	chr8:39792275-39792325	Hepatocyte	liver:	n/a
2	chr8:39792275-39792325	GM06990	blood:	n/a
3	chr8:39792275-39792325	AG09319	gingival:	n/a
4	chr8:39792275-39792325	AoSMC	blood vessel:	n/a
5	chr8:39792275-39792325	SK-N-MC	brain:	n/a
6	chr8:39792275-39792325	Jurkat	blood:	n/a
7	chr8:39792275-39792325	HCT-116	colon:	n/a
8	chr8:39792275-39792325	PFSK-1	brain:	n/a
9	chr8:39792275-39792325	HAEpiC	amniotic membrane:	n/a
10	chr8:39792275-39792325	HRCEpiC	kidney:	n/a
11	chr8:39792275-39792325	AG10803	skin:	n/a
12	chr8:39792275-39792325	HepG2	liver:	n/a
13	chr8:39792275-39792325	HEK293	kidney:	embryo
14	chr8:39792275-39792325	HCM	heart:	n/a
15	chr8:39792275-39792325	PrEC	prostate:	n/a
16	chr8:39792275-39792325	BE2_C	brain:	n/a
17	chr8:39792275-39792325	GM12878	blood:	n/a
18	chr8:39792275-39792325	NHBE	bronchial:	n/a
19	chr8:39792275-39792325	T-47D	breast:	n/a
20	chr8:39792275-39792325	HRE	kidney:	n/a
21	chr8:39792275-39792325	HMEC	breast:	n/a
22	chr8:39792275-39792325	AG04450	lung:	fetal
23	chr8:39792275-39792325	HUVEC	blood vessel:	n/a
24	chr8:39792275-39792325	CMK	blood:	n/a
25	chr8:39792275-39792325	SAEC	small airway:	n/a
26	chr8:39792275-39792325	ECC-1	luminal epithelium:	n/a
27	chr8:39792275-39792325	ProgFib	skin:	n/a
28	chr8:39792275-39792325	U87	brain:	n/a
29	chr8:39792275-39792325	K562	blood:	n/a
30	chr8:39792275-39792325	Caco-2	colon:	n/a
31	chr8:39792275-39792325	SK-N-SH_RA	brain:	n/a
32	chr8:39792275-39792325	HEEpiC	esophagus:	n/a
33	chr8:39792275-39792325	HIPEpiC	eye:	n/a
34	chr8:39792275-39792325	HRPEpiC	eye:	n/a
35	chr8:39792275-39792325	SKMC	muscle:	n/a
36	chr8:39792275-39792325	HL-60	blood:	n/a
37	chr8:39792275-39792325	NT2-D1	testis:	n/a
38	chr8:39792275-39792325	GM12891	blood:	n/a
39	chr8:39792275-39792325	BJ	skin:	n/a
40	chr8:39792275-39792325	AG04449	skin:	fetal
41	chr8:39792275-39792325	NH-A	brain:	n/a
42	chr8:39792275-39792325	A549	lung:	n/a
43	chr8:39792275-39792325	HPAEpiC	pulmonary alveolar:	n/a
44	chr8:39792275-39792325	IMR90	lung:	fetal
45	chr8:39792275-39792325	SK-N-SH	brain:	n/a
46	chr8:39792275-39792325	RPTEC	kidney:	n/a
47	chr8:39792275-39792325	HNPCEpiC	eye:	n/a
48	chr8:39792275-39792325	NB4	blood:	n/a
49	chr8:39792275-39792325	GM12892	blood:	n/a
50	chr8:39792275-39792325	GM19239	blood:	n/a

No data

Variant related genes	Relation type
IDO2	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10096592	1.00[EUR][1000 genomes]
rs10096983	1.00[EUR][1000 genomes]
rs11988447	1.00[EUR][1000 genomes]
rs11989147	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990694	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1376728	1.00[EUR][1000 genomes]
rs1451744	1.00[EUR][1000 genomes]
rs1901387	1.00[EUR][1000 genomes]
rs202002	1.00[EUR][1000 genomes]
rs202005	1.00[EUR][1000 genomes]
rs2122991	1.00[EUR][1000 genomes]
rs3974327	1.00[EUR][1000 genomes]
rs6983759	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987500	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7826274	1.00[AMR][1000 genomes]
rs7836547	1.00[EUR][1000 genomes]
rs896472	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39771600-39797200	Weak transcription	Right Atrium	heart
2	chr8:39785600-39805800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:39788200-39793800	Weak transcription	K562	blood
4	chr8:39790400-39792400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:39790600-39792400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:39791000-39792600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:39791000-39792800	Enhancers	Fetal Lung	lung
8	chr8:39791000-39793200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:39792000-39792400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:39792000-39792600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:39792000-39792600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr8:39792000-39793400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:39792200-39792400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:39792200-39792600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr8:39792200-39792800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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