Variant report

Variant	rs6899207
Chromosome Location	chr5:177631411-177631412
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:502)
CpG islands
(count:0)
Chromatin interactive
region (count:65)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	ZC3H11A	chr5:177631225-177631718	K562	blood:	n/a	n/a
3	MYC	chr5:177630868-177632684	K562	blood:	n/a	n/a
4	POLR2A	chr5:177630918-177635502	HepG2	liver:	n/a	n/a
5	SIN3AK20	chr5:177631396-177631768	K562	blood:	n/a	n/a
6	POLR2A	chr5:177630933-177632031	PANC-1	pancreas:	n/a	n/a
7	NFYB	chr5:177631074-177631807	K562	blood:	n/a	chr5:177631456-177631466 chr5:177631454-177631468 chr5:177631451-177631466 chr5:177631454-177631469 chr5:177631454-177631469 chr5:177631408-177631423
8	TBL1XR1	chr5:177631128-177631732	K562	blood:	n/a	n/a
9	PBX3	chr5:177631118-177631794	A549	lung:	n/a	chr5:177631457-177631466 chr5:177631414-177631423
10	CEBPD	chr5:177631382-177631667	HepG2	liver:	n/a	n/a
11	POLR2A	chr5:177630893-177632526	MCF-7	breast:	n/a	n/a
12	POLR2A	chr5:177630947-177632842	GM19193	blood:	n/a	n/a
13	ARID3A	chr5:177631339-177631653	K562	blood:	n/a	n/a
14	ZNF384	chr5:177630934-177631797	GM12878	blood:	n/a	n/a
15	E2F6	chr5:177630903-177632375	K562	blood:	n/a	chr5:177631456-177631465 chr5:177631587-177631597 chr5:177631779-177631788 chr5:177631291-177631300
16	POLR2A	chr5:177630886-177634610	HL-60	blood:	n/a	n/a
17	SIX5	chr5:177631339-177631583	A549	lung:	n/a	n/a
18	YY1	chr5:177631208-177631725	SK-N-SH_RA	brain:	n/a	chr5:177631589-177631598 chr5:177631291-177631300
19	RXRA	chr5:177631337-177631549	GM12878	blood:	n/a	n/a
20	RFX5	chr5:177631311-177631781	GM12878	blood:	n/a	chr5:177631457-177631466
21	POU2F2	chr5:177630967-177631785	GM12891	blood:	n/a	n/a
22	FOS	chr5:177631370-177631593	MCF10A-Er-Src	breast:	n/a	chr5:177631415-177631424
23	IRF3	chr5:177631253-177631639	GM12878	blood:	n/a	chr5:177631456-177631465
24	YY1	chr5:177631115-177631706	H1-hESC	embryonic stem cell:	n/a	chr5:177631589-177631598 chr5:177631291-177631300
25	YY1	chr5:177631386-177631614	A549	lung:	n/a	chr5:177631589-177631598
26	POLR2A	chr5:177630891-177643467	GM18505	blood:	n/a	n/a
27	CTCF	chr5:177631300-177631450	NHDF-neo	bronchial:	n/a	n/a
28	PML	chr5:177630781-177631853	K562	blood:	n/a	n/a
29	SP2	chr5:177631256-177631649	K562	blood:	n/a	chr5:177631414-177631424
30	CEBPD	chr5:177631169-177631756	K562	blood:	n/a	n/a
31	CBX3	chr5:177630824-177631697	K562	blood:	n/a	n/a
32	YY1	chr5:177631334-177631711	GM12892	blood:	n/a	chr5:177631589-177631598
33	POLR2A	chr5:177631005-177631969	A549	lung:	n/a	n/a
34	STAT3	chr5:177631302-177631664	MCF10A-Er-Src	breast:	n/a	n/a
35	HDAC2	chr5:177631212-177631688	HepG2	liver:	n/a	n/a
36	ATF3	chr5:177631303-177631804	A549	lung:	n/a	chr5:177631400-177631409
37	MAX	chr5:177630903-177631834	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr5:177631165-177631768	SK-N-SH	brain:	n/a	n/a
39	YY1	chr5:177631084-177632630	HepG2	liver:	n/a	chr5:177631589-177631598 chr5:177631291-177631300 chr5:177632371-177632385 chr5:177631749-177631760
40	GTF2F1	chr5:177631057-177631758	H1-hESC	embryonic stem cell:	n/a	n/a
41	EGR1	chr5:177631349-177631684	K562	blood:	n/a	chr5:177631398-177631407
42	CTCF	chr5:177631400-177631550	SK-N-SH_RA	brain:	n/a	n/a
43	SIN3AK20	chr5:177630889-177631885	MCF-7	breast:	n/a	n/a
44	SP1	chr5:177631159-177631817	GM12878	blood:	n/a	chr5:177631455-177631476
45	RCOR1	chr5:177630788-177631725	K562	blood:	n/a	n/a
46	CTCFL	chr5:177631382-177631613	K562	blood:	n/a	n/a
47	POLR2A	chr5:177631061-177632748	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr5:177630906-177632717	GM18951	blood:	n/a	n/a
49	TAF1	chr5:177631083-177631766	Hela-S3	cervix:	n/a	n/a
50	TEAD4	chr5:177631287-177631766	A549	lung:	n/a	n/a

No data

(count:65 , 50 per page) page: 1 2

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	chr16:9185279..9185783-chr5:177631110..177631832,2	Hela-S3	cervix:
5	chr5:177631101..177632026-chrX:129299075..129299814,2	Hela-S3	cervix:
6	chr1:45477405..45478123-chr5:177630913..177631748,2	Hela-S3	cervix:
7	chr5:177556499..177561085-chr5:177629309..177633856,7	K562	blood:
8	chr12:7052585..7053173-chr5:177631399..177632098,2	Hela-S3	cervix:
9	chr19:54704161..54704805-chr5:177631220..177631987,2	Hela-S3	cervix:
10	chr2:29093118..29093753-chr5:177631394..177631994,2	NB4	blood:
11	chr5:177629964..177631778-chr5:178045699..178047442,2	K562	blood:
12	chr5:176942187..176944181-chr5:177630972..177633765,3	K562	blood:
13	chr3:122233481..122234070-chr5:177631324..177631914,2	Hela-S3	cervix:
14	chr2:88354601..88355843-chr5:177630938..177632127,3	Hela-S3	cervix:
15	chr5:177025539..177028252-chr5:177630597..177632555,2	K562	blood:
16	chr5:177588875..177592834-chr5:177630545..177633533,4	K562	blood:
17	chr3:3168464..3169011-chr5:177631146..177631968,2	Hela-S3	cervix:
18	chr2:231577272..231578255-chr5:177631283..177631863,2	Hela-S3	cervix:
19	chr17:79828726..79829465-chr5:177631079..177631979,2	HCT-116	colon:
20	chr11:65190070..65190840-chr5:177631093..177631648,3	Hela-S3	cervix:
21	chr5:172410801..172412903-chr5:177629847..177631415,2	MCF-7	breast:
22	chr5:177631336..177632003-chr9:117349963..117350515,2	Hela-S3	cervix:
23	chr5:177017384..177019488-chr5:177631001..177633000,2	MCF-7	breast:
24	chr11:118965667..118966654-chr5:177631037..177631790,2	NB4	blood:
25	chr5:177630812..177632588-chr6:26155741..26158139,2	MCF-7	breast:
26	chr11:68038903..68039568-chr5:177630991..177631682,2	Hela-S3	cervix:
27	chr17:8339330..8340322-chr5:177631318..177632293,2	Hela-S3	cervix:
28	chr5:177631162..177632942-chr5:178051796..178054079,4	K562	blood:
29	chr2:88927008..88927587-chr5:177631246..177632535,3	Hela-S3	cervix:
30	chr5:177591354..177594975-chr5:177630282..177634044,5	MCF-7	breast:
31	chr3:49377138..49377684-chr5:177631401..177631997,2	Hela-S3	cervix:
32	chr4:68410659..68411380-chr5:177631169..177631926,2	Hela-S3	cervix:
33	chr5:177631253..177632828-chr5:178016105..178018488,2	MCF-7	breast:
34	chr19:17326110..17326840-chr5:177630959..177631880,2	Hela-S3	cervix:
35	chr5:177630932..177632998-chr5:178042770..178045637,2	K562	blood:
36	chr11:67777277..67778126-chr5:177631110..177631694,2	Hela-S3	cervix:
37	chr17:8076309..8077098-chr5:177631338..177632027,2	Hela-S3	cervix:
38	chr5:177572705..177577722-chr5:177630592..177633512,5	MCF-7	breast:
39	chr17:59477135..59479003-chr5:177630296..177633273,2	MCF-7	breast:
40	chr1:150038862..150039533-chr5:177630955..177631779,2	Hela-S3	cervix:
41	chr5:177578478..177582579-chr5:177629428..177633237,12	MCF-7	breast:
42	chr5:177631376..177633067-chr5:178051942..178054079,2	K562	blood:
43	chr5:177579578..177582486-chr5:177629664..177632966,4	K562	blood:
44	chr18:13542130..13544313-chr5:177631134..177632861,2	MCF-7	breast:
45	chr10:43902752..43903555-chr5:177631240..177631950,2	Hela-S3	cervix:
46	chr19:19496792..19497635-chr5:177631182..177631713,2	Hela-S3	cervix:
47	chr5:177630203..177632374-chr5:179049408..179051401,2	MCF-7	breast:
48	chr16:89989020..89989687-chr5:177631333..177632025,2	Hela-S3	cervix:
49	chr10:74033146..74034168-chr5:177630872..177632336,3	Hela-S3	cervix:
50	chr2:232571221..232571752-chr5:177631088..177631916,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
HNRNPAB	TF binding region
ENSG00000251211	Chromatin interaction
ENSG00000271937	Chromatin interaction
ENSG00000145911	Chromatin interaction
ENSG00000156709	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000027847	Chromatin interaction
ENSG00000072756	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000114316	Chromatin interaction
ENSG00000171067	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000050767	Chromatin interaction
ENSG00000135932	Chromatin interaction
ENSG00000116918	Chromatin interaction
ENSG00000145916	Chromatin interaction
ENSG00000179152	Chromatin interaction
ENSG00000171103	Chromatin interaction
ENSG00000114030	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000141522	Chromatin interaction
ENSG00000233461	Chromatin interaction
ENSG00000115159	Chromatin interaction
ENSG00000252464	Chromatin interaction
ENSG00000006534	Chromatin interaction
ENSG00000224020	Chromatin interaction
ENSG00000184840	Chromatin interaction
ENSG00000187514	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000169813	Chromatin interaction
ENSG00000113240	Chromatin interaction
ENSG00000053501	Chromatin interaction
ENSG00000259006	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000115641	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000168242	Chromatin interaction
ENSG00000137203	Chromatin interaction
ENSG00000234028	Chromatin interaction
ENSG00000136888	Chromatin interaction
ENSG00000182831	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000063177	Chromatin interaction
ENSG00000218690	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000172086	Chromatin interaction
ENSG00000269363	Chromatin interaction
ENSG00000170889	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000113732	Chromatin interaction
ENSG00000188486	Chromatin interaction
ENSG00000168675	Chromatin interaction
ENSG00000167491	Chromatin interaction
ENSG00000166579	Chromatin interaction
ENSG00000183258	Chromatin interaction
ENSG00000196652	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000119326	Chromatin interaction
ENSG00000145241	Chromatin interaction
ENSG00000172071	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11738131	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11740356	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11747964	0.85[ASN][1000 genomes]
rs17639190	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41285583	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55812151	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56727222	0.85[ASN][1000 genomes]
rs57358849	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57594195	0.91[ASN][1000 genomes]
rs58209854	0.85[ASN][1000 genomes]
rs61473059	0.91[ASN][1000 genomes]
rs6881230	0.80[ASN][1000 genomes]
rs6887384	0.86[ASN][1000 genomes]
rs73351260	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7707147	0.86[ASN][1000 genomes]
rs7718055	0.85[ASN][1000 genomes]
rs7719034	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	nsv820182	chr5:177630926-177634191	Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases
11	esv3373194	chr5:177630971-177633519	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 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	chr5:177630800-177631800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr5:177630800-177632200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:177630800-177632400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr5:177630800-177632400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:177630800-177632400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:177630800-177632400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr5:177630800-177632400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr5:177630800-177632400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:177630800-177632400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:177630800-177632400	Active TSS	Placenta	Placenta
17	chr5:177630800-177632400	Active TSS	Dnd41	blood
18	chr5:177630800-177632400	Active TSS	NHEK	skin
19	chr5:177630800-177632600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr5:177630800-177632600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:177630800-177632600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:177630800-177632600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:177630800-177632600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr5:177630800-177632600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr5:177630800-177632600	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr5:177630800-177632600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:177630800-177632600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr5:177630800-177632600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:177630800-177632600	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr5:177630800-177632600	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr5:177630800-177632600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:177630800-177632600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr5:177630800-177632600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr5:177630800-177632600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:177630800-177632600	Active TSS	Brain Angular Gyrus	brain
36	chr5:177630800-177632600	Active TSS	Brain Anterior Caudate	brain
37	chr5:177630800-177632600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:177630800-177632600	Active TSS	Brain Substantia Nigra	brain
39	chr5:177630800-177632600	Active TSS	Colon Smooth Muscle	Colon
40	chr5:177630800-177632600	Active TSS	Fetal Brain Female	brain
41	chr5:177630800-177632600	Active TSS	Fetal Intestine Large	intestine
42	chr5:177630800-177632600	Active TSS	Fetal Intestine Small	intestine
43	chr5:177630800-177632600	Active TSS	Fetal Lung	lung
44	chr5:177630800-177632600	Active TSS	Fetal Stomach	stomach
45	chr5:177630800-177632600	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr5:177630800-177632600	Active TSS	A549	lung
47	chr5:177630800-177632600	Active TSS	GM12878-XiMat	blood
48	chr5:177630800-177632600	Active TSS	NHDF-Ad	bronchial
49	chr5:177630800-177632800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:177630800-177632800	Active TSS	Primary T killer memory cells from peripheral blood	blood

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