Variant report

Variant	rs1322997
Chromosome Location	chr10:112630857-112630858
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr10:112630666-112631027	K562	blood:	n/a	n/a
2	ZNF263	chr10:112630575-112632800	HEK293-T-REx	kidney:	n/a	chr10:112632115-112632124
3	POLR2A	chr10:112630523-112633327	GM18505	blood:	n/a	n/a
4	TBP	chr10:112630608-112633283	K562	blood:	n/a	n/a
5	POLR2A	chr10:112630852-112633006	HL-60	blood:	n/a	n/a
6	POLR2A	chr10:112630740-112630895	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr10:112630780-112632929	MCF-7	breast:	n/a	n/a
8	RUNX3	chr10:112630658-112631576	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:112630855-112632845	K562	blood:	n/a	n/a
10	EBF1	chr10:112630714-112631065	GM12878	blood:	n/a	chr10:112630876-112630886 chr10:112630875-112630886
11	POLR2A	chr10:112630530-112633327	GM19099	blood:	n/a	n/a
12	TBL1XR1	chr10:112630766-112631035	K562	blood:	n/a	n/a
13	POLR2A	chr10:112630571-112630954	GM12891	blood:	n/a	n/a
14	MYC	chr10:112630294-112630980	K562	blood:	n/a	chr10:112630444-112630453
15	CUX1	chr10:112630810-112631136	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:112630806-112631860	GM12892	blood:	n/a	n/a
17	POLR2A	chr10:112630831-112632737	GM12878	blood:	n/a	n/a
18	PAX5	chr10:112630708-112631059	GM12878	blood:	n/a	n/a
19	YY1	chr10:112630850-112631517	GM12892	blood:	n/a	n/a
20	POLR2A	chr10:112630477-112632853	GM12892	blood:	n/a	n/a
21	GATA3	chr10:112630643-112630900	T-47D	breast:	n/a	n/a
22	POLR2A	chr10:112630751-112632790	K562	blood:	n/a	n/a
23	RUNX3	chr10:112630742-112631860	GM12878	blood:	n/a	n/a
24	STAT5A	chr10:112630463-112631577	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:112630377-112632928	GM12878	blood:	n/a	n/a
26	TCF7L2	chr10:112630700-112631764	PANC-1	pancreas:	n/a	n/a
27	MXI1	chr10:112630386-112634137	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr10:112630366-112632925	GM12892	blood:	n/a	n/a
29	POLR2A	chr10:112630286-112632912	GM12892	blood:	n/a	n/a
30	POLR2A	chr10:112630713-112632854	K562	blood:	n/a	n/a
31	POLR2A	chr10:112630610-112633472	PBDE	blood:	n/a	n/a
32	POLR2A	chr10:112630836-112632747	ProgFib	skin:	n/a	n/a
33	NFATC1	chr10:112630177-112631255	GM12878	blood:	n/a	n/a
34	MAX	chr10:112630800-112632851	NB4	blood:	n/a	chr10:112630991-112631000 chr10:112632424-112632431 chr10:112632814-112632822 chr10:112632041-112632051 chr10:112632423-112632434 chr10:112632422-112632435 chr10:112632424-112632433 chr10:112632423-112632434 chr10:112632275-112632285
35	IRF1	chr10:112630789-112630882	K562	blood:	n/a	n/a
36	RCOR1	chr10:112630687-112631264	K562	blood:	n/a	n/a
37	POLR2A	chr10:112630580-112633159	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr10:112630637-112631859	GM12878	blood:	n/a	n/a
39	RELA	chr10:112630648-112631675	GM18951	blood:	n/a	n/a
40	NRF1	chr10:112630748-112631844	SK-N-SH	brain:	n/a	chr10:112631496-112631510 chr10:112631499-112631508 chr10:112631501-112631510 chr10:112631498-112631509 chr10:112631499-112631510 chr10:112631499-112631513 chr10:112631495-112631504
41	POLR2A	chr10:112630330-112632839	Raji	blood:	n/a	n/a
42	MAX	chr10:112630707-112631066	K562	blood:	n/a	chr10:112630991-112631000
43	POLR2A	chr10:112630627-112634252	GM12878	blood:	n/a	n/a
44	RELA	chr10:112630519-112631693	GM19099	blood:	n/a	n/a
45	POLR2A	chr10:112630182-112632933	GM12892	blood:	n/a	n/a
46	TBP	chr10:112630478-112632772	H1-hESC	embryonic stem cell:	n/a	n/a
47	TCF7L2	chr10:112630666-112631623	Hela-S3	cervix:	n/a	n/a
48	MAX	chr10:112630641-112633002	HCT-116	colon:	n/a	chr10:112630991-112631000 chr10:112632424-112632431 chr10:112632814-112632822 chr10:112632041-112632051 chr10:112632423-112632434 chr10:112632422-112632435 chr10:112632424-112632433 chr10:112632423-112632434 chr10:112632275-112632285
49	POLR2A	chr10:112630462-112632767	GM18951	blood:	n/a	n/a
50	POLR2A	chr10:112630787-112632928	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:112630835-112630885	PrEC	prostate:	n/a
2	chr10:112630835-112630885	NH-A	brain:	n/a
3	chr10:112630835-112630885	H1-hESC	embryonic stem cell:	embryo
4	chr10:112630835-112630885	HPAEpiC	pulmonary alveolar:	n/a
5	chr10:112630835-112630885	Hela-S3	cervix:	n/a
6	chr10:112630835-112630885	HIPEpiC	eye:	n/a
7	chr10:112630835-112630885	HEK293	kidney:	embryo
8	chr10:112630835-112630885	PANC-1	pancreas:	n/a
9	chr10:112630835-112630885	HRPEpiC	eye:	n/a
10	chr10:112630835-112630885	SK-N-MC	brain:	n/a
11	chr10:112630835-112630885	PFSK-1	brain:	n/a
12	chr10:112630835-112630885	BE2_C	brain:	n/a
13	chr10:112630835-112630885	RPTEC	kidney:	n/a
14	chr10:112630835-112630885	CMK	blood:	n/a
15	chr10:112630835-112630885	ECC-1	luminal epithelium:	n/a
16	chr10:112630835-112630885	GM06990	blood:	n/a
17	chr10:112630835-112630885	HRE	kidney:	n/a
18	chr10:112630835-112630885	ProgFib	skin:	n/a
19	chr10:112630835-112630885	SAEC	small airway:	n/a
20	chr10:112630835-112630885	AG04450	lung:	fetal
21	chr10:112630835-112630885	T-47D	breast:	n/a
22	chr10:112630835-112630885	LNCaP	prostate:	n/a
23	chr10:112630835-112630885	HepG2	liver:	n/a
24	chr10:112630835-112630885	Caco-2	colon:	n/a
25	chr10:112630835-112630885	GM19239	blood:	n/a
26	chr10:112630835-112630885	A549	lung:	n/a
27	chr10:112630835-112630885	HNPCEpiC	eye:	n/a
28	chr10:112630835-112630885	Jurkat	blood:	n/a
29	chr10:112630835-112630885	NHDF-neo	bronchial:	n/a
30	chr10:112630835-112630885	AG04449	skin:	fetal
31	chr10:112630835-112630885	SK-N-SH	brain:	n/a
32	chr10:112630835-112630885	HCF	heart:	n/a
33	chr10:112630835-112630885	Hepatocyte	liver:	n/a
34	chr10:112630835-112630885	U87	brain:	n/a
35	chr10:112630835-112630885	K562	blood:	n/a
36	chr10:112630835-112630885	HUVEC	blood vessel:	n/a
37	chr10:112630835-112630885	NT2-D1	testis:	n/a
38	chr10:112630835-112630885	NB4	blood:	n/a
39	chr10:112630835-112630885	MCF10A-Er-Src	breast:	n/a
40	chr10:112630835-112630885	HCM	heart:	n/a
41	chr10:112630835-112630885	AG10803	skin:	n/a
42	chr10:112630835-112630885	MCF-7	breast:	n/a
43	chr10:112630835-112630885	HMEC	breast:	n/a
44	chr10:112630835-112630885	SKMC	muscle:	n/a
45	chr10:112630835-112630885	IMR90	lung:	fetal
46	chr10:112630835-112630885	GM12891	blood:	n/a
47	chr10:112630835-112630885	NHBE	bronchial:	n/a
48	chr10:112630835-112630885	SK-N-SH_RA	brain:	n/a
49	chr10:112630835-112630885	HRCEpiC	kidney:	n/a
50	chr10:112630835-112630885	AG09319	gingival:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:112630838..112635784-chr10:112676837..112681433,10	K562	blood:
2	chr10:112630522..112633740-chr10:112677502..112680452,8	K562	blood:
3	chr10:112594090..112596413-chr10:112629473..112632431,2	K562	blood:
4	chr10:112629865..112631826-chr10:112663124..112665657,2	K562	blood:
5	chr10:112581723..112584048-chr10:112629413..112632345,2	K562	blood:
6	chr10:112581444..112587243-chr10:112629842..112633404,6	MCF-7	breast:
7	chr10:112580755..112589346-chr10:112627817..112636075,27	MCF-7	breast:
8	chr10:112630166..112634091-chr10:112649118..112655902,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BBIP1-1	chr10:112628648-112631552	NONHSAT016362

No data

Variant related genes	Relation type
PDCD4	TF binding region
PDCD4	CpG island
ENSG00000150593	Chromatin interaction
ENSG00000108061	Chromatin interaction
ENSG00000203867	Chromatin interaction
ENSG00000214413	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10885075	0.90[GIH][hapmap]
rs11195368	1.00[ASW][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs11195373	0.87[EUR][1000 genomes]
rs11195376	0.92[EUR][1000 genomes]
rs11195409	0.81[EUR][1000 genomes]
rs11592186	0.92[EUR][1000 genomes]
rs11592376	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11593462	0.92[EUR][1000 genomes]
rs11593479	0.92[EUR][1000 genomes]
rs11593592	1.00[ASW][hapmap];0.83[LWK][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs11593866	0.82[EUR][1000 genomes]
rs11597120	0.92[EUR][1000 genomes]
rs11597460	0.92[EUR][1000 genomes]
rs11597928	1.00[EUR][1000 genomes]
rs11598889	1.00[CEU][hapmap]
rs11812232	0.81[EUR][1000 genomes]
rs11812855	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11813262	0.92[EUR][1000 genomes]
rs11813593	0.97[EUR][1000 genomes]
rs11814418	1.00[ASW][hapmap];0.83[LWK][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs11814686	0.92[EUR][1000 genomes]
rs11816033	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11816247	0.81[GIH][hapmap];0.92[EUR][1000 genomes]
rs11816269	1.00[ASW][hapmap];0.83[LWK][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs11816396	0.92[EUR][1000 genomes]
rs11818060	0.92[EUR][1000 genomes]
rs11818747	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818761	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818771	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11818869	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs1327556	0.92[EUR][1000 genomes]
rs1535559	0.97[EUR][1000 genomes]
rs17128189	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1885796	1.00[CEU][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs34104444	0.92[EUR][1000 genomes]
rs4917589	0.90[GIH][hapmap]
rs55647014	0.97[EUR][1000 genomes]
rs55858908	0.97[EUR][1000 genomes]
rs56237211	0.97[EUR][1000 genomes]
rs60633872	0.92[EUR][1000 genomes]
rs60681723	0.94[EUR][1000 genomes]
rs60877808	0.86[EUR][1000 genomes]
rs61469604	0.92[EUR][1000 genomes]
rs6585018	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6585020	1.00[GIH][hapmap];0.82[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7081726	1.00[GIH][hapmap];0.87[LWK][hapmap];0.86[TSI][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156304	0.87[EUR][1000 genomes]
rs74156305	0.94[EUR][1000 genomes]
rs74156307	1.00[EUR][1000 genomes]
rs74156308	0.97[EUR][1000 genomes]
rs74156309	0.92[EUR][1000 genomes]
rs74156310	0.92[EUR][1000 genomes]
rs74156311	0.92[EUR][1000 genomes]
rs74156320	0.92[EUR][1000 genomes]
rs74156323	0.92[EUR][1000 genomes]
rs7923004	1.00[GIH][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv896003	chr10:112579299-112631211	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv896002	chr10:112579299-112638028	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112621000-112631000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:112623400-112631000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:112625000-112631000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:112626400-112631000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:112627400-112631000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:112627800-112631000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr10:112628000-112631000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:112628400-112631000	Weak transcription	Colonic Mucosa	Colon
9	chr10:112629200-112631000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr10:112629400-112631000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:112629400-112631200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr10:112629800-112631200	Enhancers	Spleen	Spleen
13	chr10:112630000-112631400	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr10:112630200-112631000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr10:112630200-112631000	Enhancers	Placenta	Placenta
16	chr10:112630200-112631400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr10:112630200-112631400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr10:112630400-112631000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:112630400-112631000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr10:112630400-112631000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:112630400-112631000	Enhancers	Fetal Heart	heart
22	chr10:112630400-112631000	Enhancers	Fetal Intestine Large	intestine
23	chr10:112630400-112631000	Enhancers	Fetal Stomach	stomach
24	chr10:112630400-112631000	Enhancers	Gastric	stomach
25	chr10:112630400-112631400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:112630400-112631400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr10:112630400-112631400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr10:112630400-112631400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr10:112630400-112631400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr10:112630400-112631400	Flanking Active TSS	GM12878-XiMat	blood
31	chr10:112630400-112631800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr10:112630600-112631000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr10:112630600-112631000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr10:112630600-112631000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr10:112630600-112631000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr10:112630600-112631000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:112630600-112631000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:112630600-112631000	Enhancers	Brain Cingulate Gyrus	brain
39	chr10:112630600-112631000	Enhancers	Esophagus	oesophagus
40	chr10:112630600-112631000	Enhancers	Left Ventricle	heart
41	chr10:112630600-112631000	Flanking Active TSS	Pancreas	Pancrea
42	chr10:112630600-112631000	Enhancers	Psoas Muscle	Psoas
43	chr10:112630600-112631000	Enhancers	HepG2	liver
44	chr10:112630600-112631000	Enhancers	HSMM	muscle
45	chr10:112630600-112631000	Enhancers	NHEK	skin
46	chr10:112630600-112631000	Enhancers	Osteobl	bone
47	chr10:112630600-112631200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr10:112630600-112631200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:112630600-112631200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:112630600-112631200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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