Variant report

Variant	rs73804746
Chromosome Location	chr5:177662051-177662052
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	CHD1	chr5:177661992-177662532	IMR90	lung:	n/a	n/a
2	FOXP2	chr5:177662047-177662385	SK-N-MC	brain:	n/a	n/a
3	JUND	chr5:177661982-177662416	H1-hESC	embryonic stem cell:	n/a	chr5:177662329-177662338
4	RCOR1	chr5:177662030-177662597	HepG2	liver:	n/a	n/a
5	RAD21	chr5:177661829-177662649	HCT-116	colon:	n/a	chr5:177662206-177662225
6	MXI1	chr5:177661692-177662310	GM12878	blood:	n/a	n/a
7	CBX3	chr5:177661893-177662621	K562	blood:	n/a	n/a
8	MYC	chr5:177661660-177662640	NB4	blood:	n/a	chr5:177662294-177662304
9	MAX	chr5:177662038-177662499	K562	blood:	n/a	chr5:177662294-177662304
10	ELK1	chr5:177662043-177662241	K562	blood:	n/a	n/a
11	BHLHE40	chr5:177661787-177662611	K562	blood:	n/a	n/a
12	RAD21	chr5:177661920-177662517	MCF-7	breast:	n/a	chr5:177662206-177662225
13	ATF2	chr5:177662015-177662614	H1-hESC	embryonic stem cell:	n/a	n/a
14	RUNX3	chr5:177662007-177662413	GM12878	blood:	n/a	n/a
15	CTCF	chr5:177661955-177662448	K562	blood:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
16	E2F6	chr5:177662022-177662525	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr5:177661995-177662416	K562	blood:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
18	YY1	chr5:177662005-177662338	GM12878	blood:	n/a	n/a
19	RAD21	chr5:177662051-177662442	HepG2	liver:	n/a	chr5:177662206-177662225
20	RAD21	chr5:177661925-177662467	A549	lung:	n/a	chr5:177662206-177662225
21	RAD21	chr5:177661920-177662615	ECC-1	luminal epithelium:	n/a	chr5:177662206-177662225
22	RAD21	chr5:177662006-177662343	HepG2	liver:	n/a	chr5:177662206-177662225
23	CTCF	chr5:177662013-177662556	K562	blood:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
24	ZNF143	chr5:177662029-177662680	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr5:177661195-177662794	SK-N-SH	brain:	n/a	chr5:177662206-177662225
26	TEAD4	chr5:177662029-177662396	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr5:177661998-177662423	IMR90	lung:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
28	UBTF	chr5:177662039-177662308	K562	blood:	n/a	n/a
29	CTCF	chr5:177661992-177662417	A549	lung:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
30	RCOR1	chr5:177661984-177662662	K562	blood:	n/a	n/a
31	CHD2	chr5:177661921-177662331	K562	blood:	n/a	n/a
32	RAD21	chr5:177661933-177662602	A549	lung:	n/a	chr5:177662206-177662225
33	ZNF263	chr5:177661504-177662759	HEK293-T-REx	kidney:	n/a	n/a
34	CEBPB	chr5:177661957-177662529	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr5:177661923-177662614	NB4	blood:	n/a	chr5:177662294-177662304
36	RAD21	chr5:177662003-177662431	Hela-S3	cervix:	n/a	chr5:177662206-177662225
37	MAX	chr5:177662011-177662404	Hela-S3	cervix:	n/a	chr5:177662294-177662304
38	CTCF	chr5:177661874-177662390	H1-hESC	embryonic stem cell:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
39	MAZ	chr5:177662025-177662517	K562	blood:	n/a	n/a
40	CTCF	chr5:177662020-177662389	K562	blood:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
41	CTCF	chr5:177662033-177662372	HepG2	liver:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
42	CTCF	chr5:177662015-177662279	A549	lung:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
43	CTCF	chr5:177662031-177662449	H1-hESC	embryonic stem cell:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
44	YY1	chr5:177662043-177662367	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr5:177661985-177662448	H1-hESC	embryonic stem cell:	n/a	chr5:177662206-177662225
46	MXI1	chr5:177661961-177662514	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr5:177661983-177662442	GM12878	blood:	n/a	chr5:177662206-177662222 chr5:177662207-177662228 chr5:177662208-177662221 chr5:177662205-177662223
48	MAX	chr5:177661984-177662669	H1-hESC	embryonic stem cell:	n/a	chr5:177662294-177662304
49	RAD21	chr5:177661916-177662617	MCF-7	breast:	n/a	chr5:177662206-177662225
50	MYC	chr5:177662050-177662216	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:177661732..177662694-chr5:178017398..178018377,4	MCF-7	breast:
2	chr5:177661877..177662434-chr5:177700931..177701850,2	MCF-7	breast:
3	chr5:177659880..177662371-chr5:178030366..178033143,2	K562	blood:
4	chr5:177661743..177662668-chr5:178266372..178266966,2	K562	blood:
5	chr5:177661196..177662135-chr5:178266134..178266915,2	MCF-7	breast:

Variant related genes	Relation type
PHYKPL	TF binding region
ENSG00000050767	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11742863	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11744163	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11746584	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13356030	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17052412	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2018965	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3749806	0.87[EUR][1000 genomes]
rs58964782	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59689984	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73336866	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73336873	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
5	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
6	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
7	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1018031	chr5:177655010-177746378	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv537969	chr5:177655010-177746378	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv883195	chr5:177655194-177690539	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv883196	chr5:177655194-177690978	Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv883197	chr5:177655194-177707204	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv1025291	chr5:177657927-177756215	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv537970	chr5:177657927-177756215	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv527792	chr5:177659075-177675217	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv883198	chr5:177659075-177690539	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	nsv883199	chr5:177661902-177717640	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177659800-177665800	Weak transcription	Gastric	stomach
2	chr5:177660000-177663400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:177660000-177663800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:177660000-177664600	Weak transcription	Small Intestine	intestine
5	chr5:177660200-177662200	Enhancers	Placenta	Placenta
6	chr5:177660200-177662400	Weak transcription	Lung	lung
7	chr5:177660200-177662600	Enhancers	Fetal Thymus	thymus
8	chr5:177660200-177663400	Weak transcription	Right Atrium	heart
9	chr5:177660200-177663400	Weak transcription	Right Ventricle	heart
10	chr5:177660200-177664600	Weak transcription	HSMM	muscle
11	chr5:177660200-177665200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:177660200-177665800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr5:177660200-177667000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:177660200-177667000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:177660200-177667600	Enhancers	Fetal Muscle Trunk	muscle
16	chr5:177660400-177662400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:177660400-177662400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:177660400-177662600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:177660400-177663200	Weak transcription	Left Ventricle	heart
20	chr5:177660400-177663400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:177660400-177663400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:177660400-177663400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:177660400-177663400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:177660400-177663400	Weak transcription	Fetal Kidney	kidney
25	chr5:177660400-177663400	Weak transcription	Fetal Lung	lung
26	chr5:177660400-177663400	Weak transcription	Psoas Muscle	Psoas
27	chr5:177660400-177663600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:177660400-177663600	Weak transcription	Brain Angular Gyrus	brain
29	chr5:177660400-177663600	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:177660400-177663600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:177660400-177663600	Weak transcription	Osteobl	bone
32	chr5:177660400-177663800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:177660400-177663800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:177660400-177664000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:177660400-177664000	Weak transcription	Fetal Intestine Small	intestine
36	chr5:177660400-177664200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:177660400-177664200	Weak transcription	Esophagus	oesophagus
38	chr5:177660400-177664200	Weak transcription	HSMMtube	muscle
39	chr5:177660400-177664400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:177660400-177664600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:177660400-177665800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:177660400-177665800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:177660400-177666200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:177660400-177668000	Enhancers	Primary hematopoietic stem cells	blood
45	chr5:177660600-177664400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr5:177660600-177664400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:177661200-177662600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr5:177661200-177664400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr5:177661200-177666400	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr5:177661400-177662200	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links