Variant report

Variant	rs533989243
Chromosome Location	chr10:27634583-27634584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:27634265-27634785	GM12891	blood:	n/a	n/a
2	POLR2A	chr10:27634106-27634886	GM12892	blood:	n/a	n/a
3	NFYB	chr10:27634578-27634795	GM12878	blood:	n/a	n/a
4	MYC	chr10:27634532-27634669	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:27634408-27634813	Raji	blood:	n/a	n/a
6	RELA	chr10:27633668-27634664	GM10847	blood:	n/a	n/a
7	MXI1	chr10:27634106-27634917	SK-N-SH	brain:	n/a	n/a
8	MYC	chr10:27634331-27634820	NB4	blood:	n/a	chr10:27634657-27634672 chr10:27634659-27634674 chr10:27634660-27634670
9	CEBPB	chr10:27634283-27634772	Hela-S3	cervix:	n/a	chr10:27634411-27634420 chr10:27634411-27634422
10	POLR2A	chr10:27634407-27634810	GM12892	blood:	n/a	n/a
11	USF2	chr10:27634493-27634804	GM12878	blood:	n/a	n/a
12	MAX	chr10:27634500-27634795	GM12878	blood:	n/a	chr10:27634657-27634672 chr10:27634659-27634674 chr10:27634660-27634670
13	TBP	chr10:27633850-27634729	GM12878	blood:	n/a	n/a
14	RELA	chr10:27633531-27634799	GM12891	blood:	n/a	n/a
15	MAX	chr10:27634350-27634827	NB4	blood:	n/a	chr10:27634657-27634672 chr10:27634659-27634674 chr10:27634660-27634670
16	EBF1	chr10:27633632-27634611	GM12878	blood:	n/a	n/a
17	CEBPB	chr10:27634266-27634780	HepG2	liver:	n/a	chr10:27634411-27634420 chr10:27634411-27634422
18	RELA	chr10:27633474-27634759	GM19099	blood:	n/a	n/a
19	MXI1	chr10:27634530-27634812	GM12878	blood:	n/a	n/a
20	CEBPB	chr10:27634350-27634708	IMR90	lung:	n/a	chr10:27634411-27634420 chr10:27634411-27634422
21	RELA	chr10:27633569-27634779	GM18951	blood:	n/a	n/a
22	MAX	chr10:27634520-27634790	K562	blood:	n/a	chr10:27634657-27634672 chr10:27634659-27634674 chr10:27634660-27634670
23	WRNIP1	chr10:27634301-27634607	GM12878	blood:	n/a	n/a
24	USF1	chr10:27634538-27634781	GM12878	blood:	n/a	n/a
25	STAT3	chr10:27633878-27634786	GM12878	blood:	n/a	chr10:27634411-27634419
26	BHLHE40	chr10:27633890-27634818	GM12878	blood:	n/a	n/a
27	CEBPB	chr10:27634311-27634682	A549	lung:	n/a	chr10:27634411-27634420 chr10:27634411-27634422
28	USF1	chr10:27634567-27634767	SK-N-SH_RA	brain:	n/a	n/a
29	USF1	chr10:27634547-27634753	GM12878	blood:	n/a	n/a
30	MAX	chr10:27634418-27634755	H1-hESC	embryonic stem cell:	n/a	chr10:27634657-27634672 chr10:27634659-27634674 chr10:27634660-27634670

Variant related genes	Relation type
ENSG00000215409	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1045257	chr10:27572440-27926946	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv550242	chr10:27577568-27705855	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv550243	chr10:27577773-27705855	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv894981	chr10:27581845-27642966	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv466840	chr10:27581845-27705855	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv550244	chr10:27581845-27705855	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	esv2764124	chr10:27593427-27712416	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv894982	chr10:27595741-27713525	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv430148	chr10:27600380-27734720	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv550245	chr10:27601739-27638865	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv550246	chr10:27601739-27694764	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
15	nsv430150	chr10:27602959-27701920	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	esv2750889	chr10:27602959-27706601	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
17	nsv430149	chr10:27602959-27734720	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
18	nsv550247	chr10:27606435-27639265	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv550248	chr10:27606435-27700887	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv550249	chr10:27606435-27701737	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
21	nsv550250	chr10:27606954-27705855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
22	nsv1042004	chr10:27607185-27691799	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
23	nsv1049369	chr10:27607185-27696440	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
24	nsv1054401	chr10:27607185-27701920	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
25	nsv1054468	chr10:27607185-27702509	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
26	nsv1044075	chr10:27607185-27706601	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
27	nsv1053324	chr10:27607185-27709399	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
28	nsv1043338	chr10:27607905-27702509	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
29	nsv1053549	chr10:27607905-27713525	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
30	nsv1038408	chr10:27610078-27702509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
31	nsv1045904	chr10:27610078-27706601	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
32	nsv1052878	chr10:27610078-27709399	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
33	nsv947789	chr10:27610517-27637639	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
34	nsv550251	chr10:27612360-27667087	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
35	nsv550252	chr10:27612360-27694888	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
36	nsv550253	chr10:27612360-27703356	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
37	nsv550254	chr10:27612360-27705855	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
38	nsv466841	chr10:27612360-27713525	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
39	nsv550255	chr10:27612360-27713525	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
40	nsv894983	chr10:27612360-27713525	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
41	nsv1042483	chr10:27612682-27713408	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
42	nsv869680	chr10:27613490-27721651	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
43	nsv430151	chr10:27615394-27701894	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
44	nsv550256	chr10:27616543-27667087	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
45	nsv550257	chr10:27616543-27669824	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
46	nsv550258	chr10:27616543-27678534	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
47	nsv466842	chr10:27616543-27698951	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
48	nsv550259	chr10:27616543-27698951	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
49	nsv517741	chr10:27616543-27705855	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
50	nsv466843	chr10:27616543-27705855	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27633400-27634600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr10:27633400-27634800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr10:27633600-27634600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:27633600-27634800	Enhancers	Fetal Muscle Leg	muscle
5	chr10:27633800-27655400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:27634000-27634600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:27634000-27634600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr10:27634000-27634600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:27634000-27634800	Flanking Active TSS	GM12878-XiMat	blood
10	chr10:27634200-27634600	Enhancers	Primary B cells from peripheral blood	blood
11	chr10:27634200-27634600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:27634200-27634600	Enhancers	Right Atrium	heart
13	chr10:27634200-27634800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:27634200-27635400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr10:27634200-27635400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr10:27634400-27634600	Enhancers	Adipose Nuclei	Adipose
17	chr10:27634400-27634800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr10:27634400-27634800	Enhancers	Brain Germinal Matrix	brain
19	chr10:27634400-27635400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:27634400-27636400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr10:27634400-27636600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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