Variant report

Variant	rs35326339
Chromosome Location	chr10:50507975-50507976
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:50506647-50509010	K562	blood:	n/a	n/a
2	HEY1	chr10:50506923-50509008	K562	blood:	n/a	n/a
3	IRF1	chr10:50507843-50509080	K562	blood:	n/a	chr10:50508076-50508090
4	MAX	chr10:50506505-50508917	K562	blood:	n/a	n/a
5	UBTF	chr10:50506546-50509056	K562	blood:	n/a	n/a
6	RUNX3	chr10:50507872-50508454	GM12878	blood:	n/a	chr10:50508287-50508302
7	RCOR1	chr10:50506480-50509331	K562	blood:	n/a	n/a
8	HCFC1	chr10:50506971-50509100	K562	blood:	n/a	n/a
9	STAT1	chr10:50507895-50508319	GM12878	blood:	n/a	n/a
10	EBF1	chr10:50507875-50508385	GM12878	blood:	n/a	n/a
11	UBTF	chr10:50505840-50509021	K562	blood:	n/a	n/a
12	EP300	chr10:50506285-50508997	K562	blood:	n/a	n/a
13	TBL1XR1	chr10:50507869-50508379	GM12878	blood:	n/a	n/a
14	TBL1XR1	chr10:50506821-50509004	K562	blood:	n/a	n/a
15	POLR2A	chr10:50506948-50509008	K562	blood:	n/a	n/a
16	PML	chr10:50507905-50509060	K562	blood:	n/a	chr10:50508957-50508965
17	CUX1	chr10:50506966-50509165	K562	blood:	n/a	n/a
18	POU2F2	chr10:50507859-50508618	GM12878	blood:	n/a	chr10:50508351-50508364
19	GTF2F1	chr10:50506825-50508897	K562	blood:	n/a	n/a
20	PAX5	chr10:50507724-50508506	GM12878	blood:	n/a	chr10:50508047-50508065
21	POLR2A	chr10:50506692-50508387	K562	blood:	n/a	n/a
22	MAZ	chr10:50507630-50508389	GM12878	blood:	n/a	n/a
23	MXI1	chr10:50507611-50508910	K562	blood:	n/a	n/a
24	MXI1	chr10:50507805-50508819	GM12878	blood:	n/a	n/a
25	RAD21	chr10:50507440-50509485	SK-N-SH	brain:	n/a	chr10:50509161-50509180
26	NR2F2	chr10:50507794-50509266	K562	blood:	n/a	n/a
27	POLR2A	chr10:50505984-50509599	K562	blood:	n/a	n/a
28	POLR2A	chr10:50507461-50508527	Raji	blood:	n/a	n/a
29	ZNF384	chr10:50507462-50509064	K562	blood:	n/a	n/a
30	POLR2A	chr10:50506790-50509104	K562	blood:	n/a	n/a
31	MAZ	chr10:50506195-50509256	K562	blood:	n/a	n/a
32	TBL1XR1	chr10:50506482-50509073	K562	blood:	n/a	n/a
33	MXI1	chr10:50507529-50509166	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr10:50507862-50509057	K562	blood:	n/a	n/a
35	MYC	chr10:50506956-50509142	K562	blood:	n/a	n/a
36	E2F6	chr10:50506503-50508957	K562	blood:	n/a	n/a
37	HEY1	chr10:50506977-50508490	K562	blood:	n/a	n/a
38	CCNT2	chr10:50507373-50509112	K562	blood:	n/a	n/a
39	E2F6	chr10:50507019-50508094	K562	blood:	n/a	n/a
40	MAX	chr10:50506384-50509079	K562	blood:	n/a	n/a
41	MAFK	chr10:50507034-50508977	K562	blood:	n/a	n/a
42	WRNIP1	chr10:50507810-50508110	GM12878	blood:	n/a	n/a
43	CBX3	chr10:50506670-50509246	K562	blood:	n/a	n/a
44	RUNX3	chr10:50507782-50508536	GM12878	blood:	n/a	chr10:50508287-50508302
45	POLR2A	chr10:50507003-50509021	K562	blood:	n/a	n/a
46	IRF1	chr10:50506989-50508998	K562	blood:	n/a	chr10:50508076-50508090
47	MYC	chr10:50506958-50509161	K562	blood:	n/a	n/a
48	PAX5	chr10:50507794-50508228	GM12878	blood:	n/a	chr10:50508047-50508065
49	BHLHE40	chr10:50507016-50509408	K562	blood:	n/a	n/a
50	HMGN3	chr10:50507130-50509019	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:50384432..50385996-chr10:50507928..50509644,2	K562	blood:
2	chr10:50322533..50324257-chr10:50507150..50509486,2	K562	blood:
3	chr10:50384969..50387621-chr10:50504946..50509741,4	K562	blood:
4	chr10:50451424..50453022-chr10:50507349..50510137,2	K562	blood:
5	chr10:49863839..49866724-chr10:50507173..50508742,2	K562	blood:
6	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: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10776558	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10857463	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10857464	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10857465	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10857471	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10857472	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11101084	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11598726	0.86[EUR][1000 genomes]
rs2377963	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2377964	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2377965	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2889802	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6537524	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7908002	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7917738	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7919800	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs870369	0.96[EUR][1000 genomes];0.92[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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50503000-50508200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr10:50504800-50511200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:50505000-50508000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:50505800-50508000	Flanking Active TSS	Fetal Muscle Trunk	muscle
5	chr10:50505800-50509000	Flanking Active TSS	Fetal Muscle Leg	muscle
6	chr10:50505800-50509600	Flanking Active TSS	K562	blood
7	chr10:50506000-50508200	Flanking Active TSS	HSMMtube	muscle
8	chr10:50506600-50508600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr10:50506600-50509200	Enhancers	Primary B cells from peripheral blood	blood
10	chr10:50506600-50509200	Enhancers	Fetal Stomach	stomach
11	chr10:50506800-50508000	Active TSS	Fetal Heart	heart
12	chr10:50506800-50508600	Active TSS	Psoas Muscle	Psoas
13	chr10:50506800-50509200	Enhancers	Primary hematopoietic stem cells	blood
14	chr10:50507000-50509200	Enhancers	GM12878-XiMat	blood
15	chr10:50507200-50508000	Enhancers	Colonic Mucosa	Colon
16	chr10:50507200-50508000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr10:50507200-50509000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr10:50507200-50509000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:50507200-50511200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:50507200-50511400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr10:50507400-50508000	Flanking Active TSS	Left Ventricle	heart
22	chr10:50507400-50508000	Flanking Active TSS	Pancreas	Pancrea
23	chr10:50507400-50508000	Flanking Active TSS	Right Ventricle	heart
24	chr10:50507400-50508000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr10:50507400-50508000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
26	chr10:50507400-50508000	Enhancers	Spleen	Spleen
27	chr10:50507400-50508000	Enhancers	HSMM	muscle
28	chr10:50507400-50508600	Enhancers	Primary B cells from cord blood	blood
29	chr10:50507400-50509000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:50507400-50513800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
31	chr10:50507600-50508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:50507600-50508800	Enhancers	Brain Germinal Matrix	brain
33	chr10:50507600-50509000	Enhancers	Brain Cingulate Gyrus	brain
34	chr10:50507600-50509800	Enhancers	Placenta	Placenta
35	chr10:50507600-50511200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:50507800-50508000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:50507800-50508000	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr10:50507800-50508000	Enhancers	Lung	lung
39	chr10:50507800-50508600	Active TSS	Right Atrium	heart
40	chr10:50507800-50508800	Weak transcription	Adipose Nuclei	Adipose
41	chr10:50507800-50508800	Enhancers	Duodenum Mucosa	Duodenum
42	chr10:50507800-50509200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:50507800-50511800	Weak transcription	H1 Cell Line	embryonic stem cell

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