Variant report

Variant	rs9329138
Chromosome Location	chr5:177630913-177630914
allele	A/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	MXI1	chr5:177630908-177631805	Hela-S3	cervix:	n/a	n/a
2	MYC	chr5:177630868-177632684	K562	blood:	n/a	n/a
3	POLR2A	chr5:177630893-177632526	MCF-7	breast:	n/a	n/a
4	E2F6	chr5:177630903-177632375	K562	blood:	n/a	chr5:177631456-177631465 chr5:177631587-177631597 chr5:177631779-177631788 chr5:177631291-177631300
5	POLR2A	chr5:177630886-177634610	HL-60	blood:	n/a	n/a
6	POLR2A	chr5:177630891-177643467	GM18505	blood:	n/a	n/a
7	PML	chr5:177630781-177631853	K562	blood:	n/a	n/a
8	POLR2A	chr5:177630901-177631047	A549	lung:	n/a	n/a
9	CBX3	chr5:177630824-177631697	K562	blood:	n/a	n/a
10	MAX	chr5:177630903-177631834	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3AK20	chr5:177630889-177631885	MCF-7	breast:	n/a	n/a
12	RCOR1	chr5:177630788-177631725	K562	blood:	n/a	n/a
13	POLR2A	chr5:177630906-177632717	GM18951	blood:	n/a	n/a
14	POLR2A	chr5:177630884-177632853	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:177630831-177644633	GM12892	blood:	n/a	n/a
16	USF2	chr5:177630860-177631720	Hela-S3	cervix:	n/a	n/a
17	MXI1	chr5:177630790-177633795	IMR90	lung:	n/a	n/a
18	TAF1	chr5:177630805-177631840	A549	lung:	n/a	n/a
19	POLR2A	chr5:177630864-177635435	HL-60	blood:	n/a	n/a
20	POLR2A	chr5:177630805-177644118	GM12878	blood:	n/a	n/a
21	ELF1	chr5:177630841-177632640	GM12878	blood:	n/a	chr5:177631489-177631501 chr5:177631746-177631758 chr5:177632356-177632365 chr5:177632350-177632362
22	TAF7	chr5:177630817-177632813	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZNF384	chr5:177630071-177631797	K562	blood:	n/a	n/a
24	HEY1	chr5:177630886-177632027	K562	blood:	n/a	chr5:177630991-177631006 chr5:177631769-177631784 chr5:177631749-177631764 chr5:177631746-177631761
25	MAX	chr5:177630809-177632617	K562	blood:	n/a	n/a
26	MTA3	chr5:177630777-177631871	GM12878	blood:	n/a	n/a
27	MXI1	chr5:177630803-177633933	SK-N-SH	brain:	n/a	n/a
28	MAX	chr5:177630854-177632665	ECC-1	luminal epithelium:	n/a	n/a
29	JUND	chr5:177630882-177632672	A549	lung:	n/a	chr5:177631755-177631764 chr5:177631415-177631424
30	E2F4	chr5:177630827-177631715	MCF10A-Er-Src	breast:	n/a	chr5:177631456-177631465 chr5:177631587-177631597 chr5:177631291-177631300
31	GTF2F1	chr5:177630889-177631730	Hela-S3	cervix:	n/a	n/a
32	HDAC2	chr5:177630897-177631808	MCF-7	breast:	n/a	chr5:177631019-177631027 chr5:177630993-177631002
33	POLR2A	chr5:177630874-177634661	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUN	chr5:177630781-177632899	K562	blood:	n/a	chr5:177631755-177631764 chr5:177631415-177631424
35	MYC	chr5:177630809-177633355	A549	lung:	n/a	n/a
36	SMC3	chr5:177630912-177631705	Hela-S3	cervix:	n/a	n/a
37	MAX	chr5:177630883-177632813	GM12878	blood:	n/a	n/a
38	MAX	chr5:177630787-177632849	HCT-116	colon:	n/a	n/a
39	NFYB	chr5:177630851-177631775	GM12878	blood:	n/a	chr5:177631456-177631466 chr5:177631454-177631468 chr5:177631451-177631466 chr5:177631454-177631469 chr5:177631454-177631469 chr5:177631408-177631423
40	E2F6	chr5:177630768-177631752	H1-hESC	embryonic stem cell:	n/a	chr5:177631456-177631465 chr5:177631587-177631597 chr5:177631291-177631300
41	MYC	chr5:177630862-177632514	H1-hESC	embryonic stem cell:	n/a	n/a
42	UBTF	chr5:177630833-177632512	K562	blood:	n/a	n/a
43	SIN3AK20	chr5:177630843-177632768	PANC-1	pancreas:	n/a	n/a
44	MAX	chr5:177630902-177632650	NB4	blood:	n/a	n/a
45	POLR2A	chr5:177630835-177632870	Hela-S3	cervix:	n/a	n/a
46	HCFC1	chr5:177630758-177632802	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr5:177630877-177633266	GM12878	blood:	n/a	n/a
48	POLR2A	chr5:177630867-177635465	GM12892	blood:	n/a	n/a
49	GABPA	chr5:177630784-177631853	MCF-7	breast:	n/a	n/a
50	POLR2A	chr5:177630849-177632573	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:177630857..177632033-chr9:127420460..127421416,3	Hela-S3	cervix:
2	chr5:177630883..177632521-chr5:178985029..178986804,2	MCF-7	breast:
3	chr5:177579489..177582257-chr5:177628656..177632410,3	K562	blood:
4	chr1:45477405..45478123-chr5:177630913..177631748,2	Hela-S3	cervix:
5	chr5:177556499..177561085-chr5:177629309..177633856,7	K562	blood:
6	chr5:177629964..177631778-chr5:178045699..178047442,2	K562	blood:
7	chr5:177025539..177028252-chr5:177630597..177632555,2	K562	blood:
8	chr5:177588875..177592834-chr5:177630545..177633533,4	K562	blood:
9	chr5:172410801..172412903-chr5:177629847..177631415,2	MCF-7	breast:
10	chr5:177630812..177632588-chr6:26155741..26158139,2	MCF-7	breast:
11	chr5:177591354..177594975-chr5:177630282..177634044,5	MCF-7	breast:
12	chr5:177556137..177558058-chr5:177629793..177631358,2	MCF-7	breast:
13	chr5:177572705..177577722-chr5:177630592..177633512,5	MCF-7	breast:
14	chr17:59477135..59479003-chr5:177630296..177633273,2	MCF-7	breast:
15	chr5:177578478..177582579-chr5:177629428..177633237,12	MCF-7	breast:
16	chr5:177579578..177582486-chr5:177629664..177632966,4	K562	blood:
17	chr5:177630203..177632374-chr5:179049408..179051401,2	MCF-7	breast:
18	chr10:74033146..74034168-chr5:177630872..177632336,3	Hela-S3	cervix:
19	chr5:177555803..177560183-chr5:177628551..177633825,8	MCF-7	breast:
20	chr5:177538337..177541901-chr5:177630904..177633261,3	K562	blood:
21	chr5:177556514..177559685-chr5:177630098..177633052,4	K562	blood:

Variant related genes	Relation type
HNRNPAB	TF binding region
ENSG00000145911	Chromatin interaction
ENSG00000251211	Chromatin interaction
ENSG00000252464	Chromatin interaction
ENSG00000145916	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000224020	Chromatin interaction
ENSG00000027847	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000113732	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000113240	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17639067	0.82[ASN][1000 genomes]
rs2913749	0.89[EUR][1000 genomes]
rs2913752	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2913753	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961674	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2961675	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2961676	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2961677	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2961679	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7381117	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv1017664	chr5:177578194-177633116	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
5	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
6	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
7	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers 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	105 gene(s)	inside rSNPs	diseases
8	esv3404661	chr5:177629746-177634244	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
9	esv3357614	chr5:177630371-177632919	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177630200-177632400	Active TSS	K562	blood
2	chr5:177630200-177632600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr5:177630200-177632600	Active TSS	Hela-S3	cervix
4	chr5:177630600-177631600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:177630600-177632600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:177630600-177632800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:177630800-177631000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:177630800-177631000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:177630800-177631000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr5:177630800-177631000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:177630800-177631000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
12	chr5:177630800-177631000	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr5:177630800-177631000	Flanking Active TSS	Colonic Mucosa	Colon
14	chr5:177630800-177631000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr5:177630800-177631000	Active TSS	Right Atrium	heart
16	chr5:177630800-177631000	Enhancers	Spleen	Spleen
17	chr5:177630800-177631000	Flanking Active TSS	HSMM	muscle
18	chr5:177630800-177631000	Flanking Active TSS	HSMMtube	muscle
19	chr5:177630800-177631000	Flanking Active TSS	NHLF	lung
20	chr5:177630800-177631200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:177630800-177631200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:177630800-177631200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr5:177630800-177631200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr5:177630800-177631200	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr5:177630800-177631200	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr5:177630800-177631200	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr5:177630800-177631200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr5:177630800-177631200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr5:177630800-177631200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:177630800-177631200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr5:177630800-177631200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr5:177630800-177631200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:177630800-177631200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr5:177630800-177631200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:177630800-177631200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:177630800-177631200	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr5:177630800-177631200	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr5:177630800-177631200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr5:177630800-177631200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr5:177630800-177631200	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr5:177630800-177631200	Flanking Active TSS	Fetal Thymus	thymus
42	chr5:177630800-177631200	Flanking Active TSS	Pancreas	Pancrea
43	chr5:177630800-177631200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr5:177630800-177631200	Flanking Active TSS	HepG2	liver
45	chr5:177630800-177631200	Flanking Active TSS	HMEC	breast
46	chr5:177630800-177631200	Flanking Active TSS	HUVEC	blood vessel
47	chr5:177630800-177631200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr5:177630800-177631200	Flanking Active TSS	NH-A	brain
49	chr5:177630800-177631200	Flanking Active TSS	Osteobl	bone
50	chr5:177630800-177631400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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