Variant report

Variant	rs7897237
Chromosome Location	chr10:50507454-50507455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 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	ARID3A	chr10:50507010-50507590	K562	blood:	n/a	n/a
5	MAX	chr10:50506505-50508917	K562	blood:	n/a	n/a
6	GTF2B	chr10:50507051-50507490	K562	blood:	n/a	n/a
7	UBTF	chr10:50506546-50509056	K562	blood:	n/a	n/a
8	RCOR1	chr10:50506480-50509331	K562	blood:	n/a	n/a
9	HCFC1	chr10:50506971-50509100	K562	blood:	n/a	n/a
10	TBP	chr10:50506218-50507728	K562	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	chr10:50506821-50509004	K562	blood:	n/a	n/a
14	POLR2A	chr10:50506948-50509008	K562	blood:	n/a	n/a
15	TAF1	chr10:50507040-50507574	K562	blood:	n/a	n/a
16	CUX1	chr10:50506966-50509165	K562	blood:	n/a	n/a
17	GTF2F1	chr10:50506825-50508897	K562	blood:	n/a	n/a
18	PML	chr10:50506688-50507497	K562	blood:	n/a	n/a
19	POLR2A	chr10:50506692-50508387	K562	blood:	n/a	n/a
20	RAD21	chr10:50507440-50509485	SK-N-SH	brain:	n/a	chr10:50509161-50509180
21	POLR2A	chr10:50505984-50509599	K562	blood:	n/a	n/a
22	POLR2A	chr10:50506790-50509104	K562	blood:	n/a	n/a
23	MAZ	chr10:50506195-50509256	K562	blood:	n/a	n/a
24	TBL1XR1	chr10:50506482-50509073	K562	blood:	n/a	n/a
25	MYC	chr10:50506956-50509142	K562	blood:	n/a	n/a
26	E2F6	chr10:50506503-50508957	K562	blood:	n/a	n/a
27	HEY1	chr10:50506977-50508490	K562	blood:	n/a	n/a
28	CCNT2	chr10:50507373-50509112	K562	blood:	n/a	n/a
29	E2F6	chr10:50507019-50508094	K562	blood:	n/a	n/a
30	MAX	chr10:50506384-50509079	K562	blood:	n/a	n/a
31	MAFK	chr10:50507034-50508977	K562	blood:	n/a	n/a
32	CBX3	chr10:50506670-50509246	K562	blood:	n/a	n/a
33	POLR2A	chr10:50507003-50509021	K562	blood:	n/a	n/a
34	TAF1	chr10:50507019-50507686	K562	blood:	n/a	n/a
35	IRF1	chr10:50506989-50508998	K562	blood:	n/a	chr10:50508076-50508090
36	MYC	chr10:50506958-50509161	K562	blood:	n/a	n/a
37	ELF1	chr10:50507409-50507753	K562	blood:	n/a	n/a
38	BHLHE40	chr10:50507016-50509408	K562	blood:	n/a	n/a
39	YY1	chr10:50507393-50507821	K562	blood:	n/a	n/a
40	HMGN3	chr10:50507130-50509019	K562	blood:	n/a	n/a
41	POLR2A	chr10:50506604-50509034	K562	blood:	n/a	n/a
42	JUND	chr10:50506718-50509266	K562	blood:	n/a	chr10:50507930-50507940
43	POLR2A	chr10:50506519-50509075	K562	blood:	n/a	n/a
44	EP300	chr10:50507055-50509765	SK-N-SH	brain:	n/a	n/a
45	EGR1	chr10:50507334-50507719	K562	blood:	n/a	n/a
46	RCOR1	chr10:50507129-50507835	K562	blood:	n/a	n/a
47	ELF1	chr10:50507037-50507936	K562	blood:	n/a	n/a
48	MAX	chr10:50506969-50508114	K562	blood:	n/a	n/a
49	EGR1	chr10:50507405-50507706	K562	blood:	n/a	n/a
50	POLR2A	chr10:50507044-50508964	K562	blood:	n/a	n/a

No data

(count:6 , 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	chr10:49718293..49721279-chr10:50504590..50507564,3	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:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAT-2	chr10:50507319-50507499	NONHSAT013303

No data

Variant related genes	Relation type
C10orf71-AS1	TF binding region
ENSG00000128805	Chromatin interaction
ENSG00000165633	Chromatin interaction
ENSG00000248682	Chromatin interaction
ENSG00000204161	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10776558	0.94[JPT][hapmap]
rs10857463	1.00[JPT][hapmap]
rs10857464	0.94[JPT][hapmap]
rs10857465	0.94[JPT][hapmap]
rs10857472	0.94[JPT][hapmap]
rs11101084	0.88[JPT][hapmap]
rs2377964	0.94[JPT][hapmap];0.90[LWK][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs2377965	0.88[JPT][hapmap]
rs2889802	0.94[JPT][hapmap]
rs7917738	0.94[JPT][hapmap]
rs7919800	0.94[JPT][hapmap]
rs870369	0.94[JPT][hapmap]

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	chr10:50500600-50507800	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	chr10:50505000-50507600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr10:50505000-50508000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:50505800-50508000	Flanking Active TSS	Fetal Muscle Trunk	muscle
7	chr10:50505800-50509000	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr10:50505800-50509600	Flanking Active TSS	K562	blood
9	chr10:50506000-50507600	Bivalent Enhancer	Placenta	Placenta
10	chr10:50506000-50507800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr10:50506000-50508200	Flanking Active TSS	HSMMtube	muscle
12	chr10:50506200-50507800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:50506400-50507800	Enhancers	Adipose Nuclei	Adipose
14	chr10:50506600-50508600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr10:50506600-50509200	Enhancers	Primary B cells from peripheral blood	blood
16	chr10:50506600-50509200	Enhancers	Fetal Stomach	stomach
17	chr10:50506800-50507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:50506800-50508000	Active TSS	Fetal Heart	heart
19	chr10:50506800-50508600	Active TSS	Psoas Muscle	Psoas
20	chr10:50506800-50509200	Enhancers	Primary hematopoietic stem cells	blood
21	chr10:50507000-50509200	Enhancers	GM12878-XiMat	blood
22	chr10:50507200-50507600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:50507200-50507600	Enhancers	Ovary	ovary
24	chr10:50507200-50508000	Enhancers	Colonic Mucosa	Colon
25	chr10:50507200-50508000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr10:50507200-50509000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr10:50507200-50509000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr10:50507200-50511200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:50507200-50511400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr10:50507400-50507600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:50507400-50507600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:50507400-50507600	Bivalent Enhancer	Fetal Intestine Large	intestine
33	chr10:50507400-50507800	Transcr. at gene 5' and 3'	Right Atrium	heart
34	chr10:50507400-50508000	Flanking Active TSS	Left Ventricle	heart
35	chr10:50507400-50508000	Flanking Active TSS	Pancreas	Pancrea
36	chr10:50507400-50508000	Flanking Active TSS	Right Ventricle	heart
37	chr10:50507400-50508000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr10:50507400-50508000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
39	chr10:50507400-50508000	Enhancers	Spleen	Spleen
40	chr10:50507400-50508000	Enhancers	HSMM	muscle
41	chr10:50507400-50508600	Enhancers	Primary B cells from cord blood	blood
42	chr10:50507400-50509000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr10:50507400-50513800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle

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