Variant report

Variant	rs17774672
Chromosome Location	chr10:50507709-50507710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr10:50506912-50507740	K562	blood:	n/a	n/a
2	POLR2A	chr10:50506647-50509010	K562	blood:	n/a	n/a
3	HEY1	chr10:50506923-50509008	K562	blood:	n/a	n/a
4	MAX	chr10:50506505-50508917	K562	blood:	n/a	n/a
5	UBTF	chr10:50506546-50509056	K562	blood:	n/a	n/a
6	RCOR1	chr10:50506480-50509331	K562	blood:	n/a	n/a
7	HCFC1	chr10:50506971-50509100	K562	blood:	n/a	n/a
8	TBP	chr10:50506218-50507728	K562	blood:	n/a	n/a
9	UBTF	chr10:50505840-50509021	K562	blood:	n/a	n/a
10	EP300	chr10:50506285-50508997	K562	blood:	n/a	n/a
11	TBL1XR1	chr10:50506821-50509004	K562	blood:	n/a	n/a
12	POLR2A	chr10:50506948-50509008	K562	blood:	n/a	n/a
13	CUX1	chr10:50506966-50509165	K562	blood:	n/a	n/a
14	GTF2F1	chr10:50506825-50508897	K562	blood:	n/a	n/a
15	POLR2A	chr10:50506692-50508387	K562	blood:	n/a	n/a
16	MAZ	chr10:50507630-50508389	GM12878	blood:	n/a	n/a
17	ZNF143	chr10:50507517-50507846	K562	blood:	n/a	n/a
18	MXI1	chr10:50507611-50508910	K562	blood:	n/a	n/a
19	RAD21	chr10:50507440-50509485	SK-N-SH	brain:	n/a	chr10:50509161-50509180
20	POLR2A	chr10:50505984-50509599	K562	blood:	n/a	n/a
21	POLR2A	chr10:50507461-50508527	Raji	blood:	n/a	n/a
22	ZNF384	chr10:50507462-50509064	K562	blood:	n/a	n/a
23	POLR2A	chr10:50506790-50509104	K562	blood:	n/a	n/a
24	MAZ	chr10:50506195-50509256	K562	blood:	n/a	n/a
25	TBL1XR1	chr10:50506482-50509073	K562	blood:	n/a	n/a
26	MXI1	chr10:50507529-50509166	SK-N-SH	brain:	n/a	n/a
27	MYC	chr10:50506956-50509142	K562	blood:	n/a	n/a
28	E2F6	chr10:50506503-50508957	K562	blood:	n/a	n/a
29	HEY1	chr10:50506977-50508490	K562	blood:	n/a	n/a
30	CCNT2	chr10:50507373-50509112	K562	blood:	n/a	n/a
31	E2F6	chr10:50507019-50508094	K562	blood:	n/a	n/a
32	MAX	chr10:50506384-50509079	K562	blood:	n/a	n/a
33	MAFK	chr10:50507034-50508977	K562	blood:	n/a	n/a
34	CBX3	chr10:50506670-50509246	K562	blood:	n/a	n/a
35	POLR2A	chr10:50507003-50509021	K562	blood:	n/a	n/a
36	IRF1	chr10:50506989-50508998	K562	blood:	n/a	chr10:50508076-50508090
37	MYC	chr10:50506958-50509161	K562	blood:	n/a	n/a
38	ELF1	chr10:50507409-50507753	K562	blood:	n/a	n/a
39	BHLHE40	chr10:50507016-50509408	K562	blood:	n/a	n/a
40	YY1	chr10:50507393-50507821	K562	blood:	n/a	n/a
41	HMGN3	chr10:50507130-50509019	K562	blood:	n/a	n/a
42	POLR2A	chr10:50507626-50507730	MCF-7	breast:	n/a	n/a
43	CHD2	chr10:50507647-50507837	GM12878	blood:	n/a	n/a
44	POLR2A	chr10:50506604-50509034	K562	blood:	n/a	n/a
45	JUND	chr10:50506718-50509266	K562	blood:	n/a	chr10:50507930-50507940
46	POLR2A	chr10:50506519-50509075	K562	blood:	n/a	n/a
47	EP300	chr10:50507055-50509765	SK-N-SH	brain:	n/a	n/a
48	EGR1	chr10:50507334-50507719	K562	blood:	n/a	n/a
49	RCOR1	chr10:50507129-50507835	K562	blood:	n/a	n/a
50	ELF1	chr10:50507037-50507936	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:50322533..50324257-chr10:50507150..50509486,2	K562	blood:
2	chr10:50384969..50387621-chr10:50504946..50509741,4	K562	blood:
3	chr10:50451424..50453022-chr10:50507349..50510137,2	K562	blood:
4	chr10:49863839..49866724-chr10:50507173..50508742,2	K562	blood:
5	chr10:50374066..50375952-chr10:50506772..50508302,2	K562	blood:

No data

Variant related genes	Relation type
C10orf71-AS1	TF binding region
ENSG00000204161	Chromatin interaction
ENSG00000128805	Chromatin interaction
ENSG00000165633	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1001338	0.87[ASN][1000 genomes]
rs11101077	0.87[ASN][1000 genomes]
rs11816487	0.87[ASN][1000 genomes]
rs11817954	0.87[ASN][1000 genomes]
rs17176642	0.87[ASN][1000 genomes]
rs17176649	0.87[ASN][1000 genomes]
rs17176677	0.87[ASN][1000 genomes]
rs17783271	0.87[ASN][1000 genomes]
rs2377968	0.87[ASN][1000 genomes]
rs2377970	0.87[ASN][1000 genomes]
rs2377971	0.87[ASN][1000 genomes]
rs2377972	0.87[ASN][1000 genomes]
rs2889804	0.87[ASN][1000 genomes]
rs4409751	0.87[ASN][1000 genomes]
rs4440951	0.87[ASN][1000 genomes]
rs4838379	0.87[ASN][1000 genomes]
rs4838490	0.87[ASN][1000 genomes]
rs4838491	0.87[ASN][1000 genomes]
rs4838495	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6537521	0.87[ASN][1000 genomes]
rs6537522	0.87[ASN][1000 genomes]
rs7900404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7900538	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7904928	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7906537	0.87[ASN][1000 genomes]
rs7919151	1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895376	chr10:50480164-50557211	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50500600-50507800	Weak transcription	Lung	lung
2	chr10:50503000-50508200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:50504800-50511200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:50505000-50508000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:50505800-50508000	Flanking Active TSS	Fetal Muscle Trunk	muscle
6	chr10:50505800-50509000	Flanking Active TSS	Fetal Muscle Leg	muscle
7	chr10:50505800-50509600	Flanking Active TSS	K562	blood
8	chr10:50506000-50507800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr10:50506000-50508200	Flanking Active TSS	HSMMtube	muscle
10	chr10:50506200-50507800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:50506400-50507800	Enhancers	Adipose Nuclei	Adipose
12	chr10:50506600-50508600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr10:50506600-50509200	Enhancers	Primary B cells from peripheral blood	blood
14	chr10:50506600-50509200	Enhancers	Fetal Stomach	stomach
15	chr10:50506800-50508000	Active TSS	Fetal Heart	heart
16	chr10:50506800-50508600	Active TSS	Psoas Muscle	Psoas
17	chr10:50506800-50509200	Enhancers	Primary hematopoietic stem cells	blood
18	chr10:50507000-50509200	Enhancers	GM12878-XiMat	blood
19	chr10:50507200-50508000	Enhancers	Colonic Mucosa	Colon
20	chr10:50507200-50508000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr10:50507200-50509000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr10:50507200-50509000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:50507200-50511200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:50507200-50511400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr10:50507400-50507800	Transcr. at gene 5' and 3'	Right Atrium	heart
26	chr10:50507400-50508000	Flanking Active TSS	Left Ventricle	heart
27	chr10:50507400-50508000	Flanking Active TSS	Pancreas	Pancrea
28	chr10:50507400-50508000	Flanking Active TSS	Right Ventricle	heart
29	chr10:50507400-50508000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr10:50507400-50508000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
31	chr10:50507400-50508000	Enhancers	Spleen	Spleen
32	chr10:50507400-50508000	Enhancers	HSMM	muscle
33	chr10:50507400-50508600	Enhancers	Primary B cells from cord blood	blood
34	chr10:50507400-50509000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr10:50507400-50513800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
36	chr10:50507600-50507800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:50507600-50507800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr10:50507600-50508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr10:50507600-50508800	Enhancers	Brain Germinal Matrix	brain
40	chr10:50507600-50509000	Enhancers	Brain Cingulate Gyrus	brain
41	chr10:50507600-50509800	Enhancers	Placenta	Placenta
42	chr10:50507600-50511200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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