Variant report

Variant	rs373410066
Chromosome Location	chr5:37371040-37371041
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	YY1	chr5:37371011-37371588	SK-N-SH_RA	brain:	n/a	n/a
2	POLR2A	chr5:37370830-37372083	GM12878	blood:	n/a	n/a
3	RELA	chr5:37370844-37371766	GM10847	blood:	n/a	n/a
4	CREB1	chr5:37370650-37371782	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:37370825-37371811	U87	brain:	n/a	n/a
6	CREB1	chr5:37370745-37371385	ECC-1	luminal epithelium:	n/a	n/a
7	MYBL2	chr5:37370837-37371705	HepG2	liver:	n/a	n/a
8	POLR2A	chr5:37370845-37371993	SK-N-SH	brain:	n/a	n/a
9	ETS1	chr5:37370880-37371415	GM12878	blood:	n/a	chr5:37371213-37371224 chr5:37371215-37371224 chr5:37371207-37371224 chr5:37371212-37371227 chr5:37371213-37371223
10	PAX5	chr5:37370933-37371861	GM12878	blood:	n/a	chr5:37371615-37371632 chr5:37371215-37371224 chr5:37371174-37371183
11	POLR2A	chr5:37370988-37371684	HepG2	liver:	n/a	n/a
12	RCOR1	chr5:37370565-37371572	Hela-S3	cervix:	n/a	n/a
13	YY1	chr5:37370874-37371418	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:37370929-37371797	Gliobla	brain:	n/a	n/a
15	HEY1	chr5:37370871-37371620	HepG2	liver:	n/a	n/a
16	FOXM1	chr5:37370845-37371836	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:37370537-37371650	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr5:37370915-37371913	GM12878	blood:	n/a	n/a
19	MAX	chr5:37370699-37371847	HepG2	liver:	n/a	n/a
20	CTCF	chr5:37370920-37371070	AG04449	skin:	n/a	n/a
21	BCL3	chr5:37370732-37371729	A549	lung:	n/a	chr5:37371215-37371224
22	ZNF143	chr5:37370632-37371964	K562	blood:	n/a	n/a
23	TCF12	chr5:37370715-37372058	A549	lung:	n/a	n/a
24	REST	chr5:37370694-37371696	K562	blood:	n/a	n/a
25	GABPA	chr5:37370915-37371745	HL-60	blood:	n/a	chr5:37371218-37371225
26	WRNIP1	chr5:37370573-37371931	GM12878	blood:	n/a	n/a
27	TRIM28	chr5:37370855-37372147	K562	blood:	n/a	n/a
28	TEAD4	chr5:37370673-37371825	K562	blood:	n/a	n/a
29	STAT1	chr5:37370795-37371925	GM12878	blood:	n/a	n/a
30	SIN3A	chr5:37370559-37371908	H1-hESC	embryonic stem cell:	n/a	chr5:37371120-37371130
31	CTCF	chr5:37371040-37371190	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:37370932-37371845	GM12891	blood:	n/a	n/a
33	MXI1	chr5:37370606-37371380	Hela-S3	cervix:	n/a	n/a
34	MAX	chr5:37370727-37371823	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr5:37370980-37371130	AG04449	skin:	n/a	n/a
36	POLR2A	chr5:37370459-37371987	PFSK-1	brain:	n/a	n/a
37	PML	chr5:37370737-37372112	K562	blood:	n/a	n/a
38	BHLHE40	chr5:37370906-37372116	GM12878	blood:	n/a	n/a
39	SIN3AK20	chr5:37370952-37371533	A549	lung:	n/a	n/a
40	SRF	chr5:37370889-37371814	MCF-7	breast:	n/a	n/a
41	POLR2A	chr5:37370512-37372539	K562	blood:	n/a	n/a
42	SPI1	chr5:37370952-37371693	HL-60	blood:	n/a	chr5:37371215-37371228 chr5:37371265-37371274 chr5:37371266-37371273 chr5:37371216-37371225 chr5:37371214-37371227
43	TAF1	chr5:37370832-37371695	ECC-1	luminal epithelium:	n/a	n/a
44	MXI1	chr5:37370717-37371760	HepG2	liver:	n/a	n/a
45	RUNX3	chr5:37370920-37371789	GM12878	blood:	n/a	n/a
46	TAF1	chr5:37370795-37371717	H1-hESC	embryonic stem cell:	n/a	n/a
47	GABPA	chr5:37370750-37371762	HL-60	blood:	n/a	chr5:37371218-37371225
48	POLR2A	chr5:37370911-37371762	MCF-7	breast:	n/a	n/a
49	SMARCB1	chr5:37370810-37371735	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr5:37370715-37371924	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:37369538..37373129-chr5:37377393..37380859,4	MCF-7	breast:
2	chr5:37370037..37373489-chr5:37377973..37381470,5	K562	blood:
3	chr5:37369760..37372730-chr5:37375256..37380889,7	MCF-7	breast:
4	chr1:11967776..11968487-chr5:37370635..37371332,2	Hela-S3	cervix:
5	chr5:37370138..37373249-chr5:37374935..37377740,7	K562	blood:
6	chr5:37370774..37371595-chr8:126009906..126010854,2	Hela-S3	cervix:
7	chr5:37370692..37371320-chr5:72794239..72794798,2	Hela-S3	cervix:
8	chr19:10443916..10444436-chr5:37370772..37371335,2	NB4	blood:
9	chr5:37349723..37351295-chr5:37369578..37371440,2	K562	blood:

Variant related genes	Relation type
NUP155	TF binding region
ENSG00000104549	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000250455	Chromatin interaction
ENSG00000113569	Chromatin interaction
ENSG00000161847	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000082068	Chromatin interaction
ENSG00000145741	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers 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	45 gene(s)	inside rSNPs	diseases
7	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS 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	43 gene(s)	inside rSNPs	diseases
8	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
12	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
13	nsv597824	chr5:37206621-37409579	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	nsv597825	chr5:37206621-37430365	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	nsv880817	chr5:37239240-37465126	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
19	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv1029088	chr5:37285576-37604945	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv597844	chr5:37287836-37567851	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv881076	chr5:37294473-37479198	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	nsv1028058	chr5:37302941-37581735	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv537728	chr5:37302941-37581735	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
27	nsv1028054	chr5:37331852-37586211	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
28	nsv537730	chr5:37331852-37586211	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
29	nsv1030797	chr5:37335832-37445040	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
30	nsv471012	chr5:37349895-37545998	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
31	nsv597845	chr5:37369958-37556926	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	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	chr5:37369200-37372200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:37369200-37372400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:37369400-37372200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr5:37369600-37371800	Active TSS	Stomach Mucosa	stomach
5	chr5:37369600-37372000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr5:37369600-37372000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr5:37369600-37372200	Active TSS	Psoas Muscle	Psoas
8	chr5:37369800-37371400	Active TSS	NHLF	lung
9	chr5:37369800-37371600	Active TSS	HMEC	breast
10	chr5:37369800-37371600	Active TSS	K562	blood
11	chr5:37369800-37371800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr5:37369800-37371800	Active TSS	Colonic Mucosa	Colon
13	chr5:37369800-37371800	Active TSS	Fetal Intestine Small	intestine
14	chr5:37369800-37372000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:37369800-37372000	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:37369800-37372000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr5:37369800-37372200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr5:37369800-37372200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:37369800-37372200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:37369800-37372200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:37369800-37372200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:37369800-37372200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:37369800-37372200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:37369800-37372200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:37369800-37372200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:37369800-37372200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:37370000-37371200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:37370000-37371200	Active TSS	Hela-S3	cervix
29	chr5:37370000-37371600	Active TSS	Placenta Amnion	Placenta Amnion
30	chr5:37370000-37371800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:37370000-37371800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:37370000-37371800	Active TSS	Fetal Intestine Large	intestine
33	chr5:37370000-37371800	Active TSS	HSMM	muscle
34	chr5:37370000-37372000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:37370000-37372000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:37370000-37372000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:37370000-37372000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:37370000-37372000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr5:37370000-37372000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr5:37370000-37372000	Active TSS	Ovary	ovary
41	chr5:37370000-37372000	Active TSS	Right Atrium	heart
42	chr5:37370000-37372000	Active TSS	A549	lung
43	chr5:37370000-37372000	Active TSS	NHDF-Ad	bronchial
44	chr5:37370000-37372200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:37370000-37372200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:37370000-37372200	Active TSS	Aorta	Aorta
47	chr5:37370000-37372400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr5:37370000-37372400	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr5:37370000-37372400	Active TSS	GM12878-XiMat	blood
50	chr5:37370200-37371200	Active TSS	Dnd41	blood

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