Variant report

Variant	rs74117686
Chromosome Location	chr10:1102198-1102199
allele	C/G
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	JUN	chr10:1102046-1102843	K562	blood:	n/a	chr10:1102317-1102326 chr10:1102315-1102323 chr10:1102828-1102837
2	POLR2A	chr10:1102044-1102996	HCT-116	colon:	n/a	n/a
3	POLR2A	chr10:1102058-1103452	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:1101946-1102964	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOSL1	chr10:1102155-1102472	K562	blood:	n/a	chr10:1102317-1102326 chr10:1102315-1102323 chr10:1102316-1102327
6	TBP	chr10:1101957-1102909	HepG2	liver:	n/a	n/a
7	BHLHE40	chr10:1101911-1102216	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:1102015-1102988	K562	blood:	n/a	n/a
9	SIN3AK20	chr10:1102069-1102330	H1-hESC	embryonic stem cell:	n/a	n/a
10	FOS	chr10:1102140-1102473	MCF10A-Er-Src	breast:	n/a	chr10:1102317-1102326 chr10:1102316-1102327 chr10:1102315-1102323
11	POLR2A	chr10:1101755-1103218	Hela-S3	cervix:	n/a	n/a
12	GATA3	chr10:1101975-1102910	A549	lung:	n/a	n/a
13	TRIM28	chr10:1101945-1102869	K562	blood:	n/a	chr10:1102316-1102325
14	BCLAF1	chr10:1101969-1103085	GM12878	blood:	n/a	chr10:1102459-1102472 chr10:1102742-1102751 chr10:1102455-1102468
15	POLR2A	chr10:1101653-1102978	GM12878	blood:	n/a	n/a
16	ATF1	chr10:1102088-1102899	K562	blood:	n/a	n/a
17	HDAC2	chr10:1101979-1103234	MCF-7	breast:	n/a	chr10:1102272-1102286
18	CTCF	chr10:1102185-1102282	K562	blood:	n/a	n/a
19	EP300	chr10:1102041-1102969	K562	blood:	n/a	chr10:1102730-1102737 chr10:1102658-1102667 chr10:1102653-1102660 chr10:1102743-1102750 chr10:1102659-1102668
20	POLR2A	chr10:1101769-1102949	HUVEC	blood vessel:	n/a	n/a
21	TAF1	chr10:1102144-1103080	ECC-1	luminal epithelium:	n/a	n/a
22	REST	chr10:1102119-1102618	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr10:1101242-1104708	IMR90	lung:	n/a	n/a
24	MAX	chr10:1102143-1103165	MCF-7	breast:	n/a	n/a
25	MYC	chr10:1101739-1102990	K562	blood:	n/a	n/a
26	TAF1	chr10:1102171-1102879	K562	blood:	n/a	n/a
27	ZNF384	chr10:1102014-1102304	GM12878	blood:	n/a	n/a
28	PML	chr10:1101830-1103161	GM12878	blood:	n/a	chr10:1102316-1102325
29	POLR2A	chr10:1101699-1103515	GM12878	blood:	n/a	n/a
30	PML	chr10:1102146-1103172	MCF-7	breast:	n/a	chr10:1102316-1102325
31	PAX5	chr10:1101661-1102198	GM12878	blood:	n/a	n/a
32	POLR2A	chr10:1101961-1103234	H1-neurons	neurons:	n/a	n/a
33	RUNX3	chr10:1101865-1102930	GM12878	blood:	n/a	n/a
34	CHD1	chr10:1100666-1103912	IMR90	lung:	n/a	chr10:1103297-1103307
35	POLR2A	chr10:1101957-1103006	SK-N-SH	brain:	n/a	n/a
36	SREBP2	chr10:1102150-1103090	GM12878	blood:	n/a	n/a
37	POLR2A	chr10:1101523-1103113	PBDE	blood:	n/a	n/a
38	STAT5A	chr10:1101952-1102948	GM12878	blood:	n/a	n/a
39	POLR2A	chr10:1101680-1103320	Hela-S3	cervix:	n/a	n/a
40	TBP	chr10:1102064-1102882	K562	blood:	n/a	n/a
41	E2F6	chr10:1102131-1102813	K562	blood:	n/a	chr10:1102450-1102462
42	GATA1	chr10:1101782-1102890	PBDE	blood:	n/a	n/a
43	MAX	chr10:1101942-1103015	SK-N-SH	brain:	n/a	n/a
44	TAF1	chr10:1102073-1102879	SK-N-SH	brain:	n/a	n/a
45	MAX	chr10:1101836-1103057	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr10:1101957-1103056	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr10:1101962-1102282	Hela-S3	cervix:	n/a	n/a
48	RELA	chr10:1102046-1102942	GM15510	blood:	n/a	n/a
49	POLR2A	chr10:1101982-1102925	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr10:1101942-1103129	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:1031887..1035944-chr10:1099515..1103666,8	MCF-7	breast:
2	chr10:1090197..1098635-chr10:1098667..1108160,39	K562	blood:
3	chr10:1034367..1036220-chr10:1101305..1103834,2	MCF-7	breast:
4	chr10:1033196..1035740-chr10:1100283..1103390,4	K562	blood:
5	chr10:1031711..1035740-chr10:1100728..1103796,4	K562	blood:
6	chr10:1101227..1103442-chr17:57918099..57920735,2	MCF-7	breast:
7	chr10:977031..978658-chr10:1101205..1103073,2	K562	blood:
8	chr10:974670..978531-chr10:1101117..1104171,5	K562	blood:
9	chr10:1100725..1104850-chr10:1118585..1122154,6	K562	blood:
10	chr10:1101511..1104003-chr10:3108866..3111744,3	MCF-7	breast:
11	chr10:975799..978442-chr10:1098842..1102725,4	MCF-7	breast:
12	chr10:1100859..1106350-chr10:1117983..1126025,11	MCF-7	breast:

Variant related genes	Relation type
WDR37	TF binding region
ENSG00000067064	Chromatin interaction
ENSG00000067057	Chromatin interaction
ENSG00000205740	Chromatin interaction
ENSG00000107929	Chromatin interaction
ENSG00000107937	Chromatin interaction
ENSG00000047056	Chromatin interaction
ENSG00000199004	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs55746206	1.00[AFR][1000 genomes]
rs55758242	1.00[AFR][1000 genomes]
rs56293499	1.00[AFR][1000 genomes]
rs56752578	1.00[AFR][1000 genomes]
rs57186298	1.00[AFR][1000 genomes]
rs57392216	0.87[AFR][1000 genomes]
rs57412563	1.00[AFR][1000 genomes]
rs58302550	1.00[AFR][1000 genomes]
rs58601779	1.00[AFR][1000 genomes]
rs59543298	1.00[AFR][1000 genomes]
rs60776568	1.00[AFR][1000 genomes]
rs74117664	1.00[AFR][1000 genomes]
rs74117675	1.00[AFR][1000 genomes]
rs74117676	1.00[AFR][1000 genomes]
rs74117677	1.00[AFR][1000 genomes]
rs74117689	1.00[AFR][1000 genomes]
rs74117691	1.00[AFR][1000 genomes]
rs74117692	1.00[AFR][1000 genomes]
rs74117694	1.00[AFR][1000 genomes]
rs74117695	1.00[AFR][1000 genomes]
rs74117698	1.00[AFR][1000 genomes]
rs74117700	1.00[AFR][1000 genomes]
rs74117701	1.00[AFR][1000 genomes]
rs74117702	1.00[AFR][1000 genomes]
rs74117815	1.00[AFR][1000 genomes]
rs74117823	1.00[AFR][1000 genomes]
rs74117842	1.00[AFR][1000 genomes]
rs74120404	1.00[AFR][1000 genomes]
rs74120406	1.00[AFR][1000 genomes]
rs74120407	1.00[AFR][1000 genomes]
rs74120408	1.00[AFR][1000 genomes]
rs74120410	1.00[AFR][1000 genomes]
rs74120412	1.00[AFR][1000 genomes]
rs74120413	1.00[AFR][1000 genomes]
rs74120415	1.00[AFR][1000 genomes]
rs74120416	1.00[AFR][1000 genomes]
rs74120418	1.00[AFR][1000 genomes]
rs74120419	1.00[AFR][1000 genomes]
rs74120426	1.00[AFR][1000 genomes]
rs74120430	1.00[AFR][1000 genomes]
rs74120454	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS 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 miRNA	43 gene(s)	inside rSNPs	diseases
3	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv540408	chr10:955835-1260680	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic 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	34 gene(s)	inside rSNPs	diseases
11	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1050577	chr10:986723-1277854	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv540409	chr10:986723-1277854	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv949405	chr10:1010464-1376105	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1048254	chr10:1016006-1146595	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
16	nsv1040178	chr10:1024910-1126104	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription 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	26 gene(s)	inside rSNPs	diseases
17	nsv540410	chr10:1024910-1126104	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv894722	chr10:1058837-1274538	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
19	nsv1046220	chr10:1064024-1188998	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
20	nsv894723	chr10:1073684-1259485	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
21	nsv894724	chr10:1084942-1116294	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1100000-1103800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:1100800-1104400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:1101000-1102200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr10:1101000-1102200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr10:1101000-1102200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr10:1101000-1102800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:1101000-1103600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr10:1101000-1103600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr10:1101000-1103800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:1101000-1103800	Active TSS	GM12878-XiMat	blood
11	chr10:1101000-1104000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr10:1101000-1104200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:1101200-1103200	Active TSS	Aorta	Aorta
14	chr10:1101200-1103400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr10:1101200-1103400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:1101200-1103400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr10:1101200-1103600	Active TSS	HSMMtube	muscle
18	chr10:1101200-1103800	Active TSS	Psoas Muscle	Psoas
19	chr10:1101200-1103800	Active TSS	Right Ventricle	heart
20	chr10:1101200-1104200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr10:1101200-1104400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:1101200-1104400	Active TSS	Right Atrium	heart
23	chr10:1101400-1102200	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr10:1101400-1102200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr10:1101400-1102200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr10:1101400-1102200	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr10:1101400-1102600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:1101400-1103200	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr10:1101400-1103400	Active TSS	Rectal Smooth Muscle	rectum
30	chr10:1101400-1103600	Active TSS	HMEC	breast
31	chr10:1101400-1103600	Active TSS	HSMM	muscle
32	chr10:1101400-1103600	Active TSS	NHDF-Ad	bronchial
33	chr10:1101400-1103800	Active TSS	NHLF	lung
34	chr10:1101400-1104000	Active TSS	A549	lung
35	chr10:1101400-1104000	Active TSS	HepG2	liver
36	chr10:1101400-1104200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr10:1101400-1104400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:1101600-1102200	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr10:1101600-1102200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr10:1101600-1102200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr10:1101600-1102200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:1101600-1102200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr10:1101600-1102400	Active TSS	Colonic Mucosa	Colon
44	chr10:1101600-1102800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr10:1101600-1103000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr10:1101600-1103000	Active TSS	Stomach Smooth Muscle	stomach
47	chr10:1101600-1103200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:1101600-1103200	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr10:1101600-1103200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr10:1101600-1103200	Active TSS	Fetal Brain Female	brain

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