Variant report

Variant	rs6887384
Chromosome Location	chr5:177651040-177651041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:177649760-177653014	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr5:177647680-177651473	HepG2	liver:	n/a	n/a
3	GTF2F1	chr5:177650805-177651046	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:177650392-177652772	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:177647997-177651461	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:177650637-177651303	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr5:177650707-177652879	K562	blood:	n/a	n/a
8	ATF2	chr5:177650617-177651086	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr5:177650596-177651835	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:177651018-177651274	A549	lung:	n/a	n/a
11	SP4	chr5:177650780-177651111	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:177650542-177651324	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr5:177650809-177651164	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:177647806-177652259	GM12891	blood:	n/a	n/a
15	POLR2A	chr5:177647467-177652584	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:177650916-177651670	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr5:177650619-177651814	A549	lung:	n/a	n/a
18	POLR2A	chr5:177648283-177651899	K562	blood:	n/a	n/a
19	USF1	chr5:177650664-177651042	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:177647972-177652526	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:177647479-177653078	K562	blood:	n/a	n/a
22	POLR2A	chr5:177649681-177652419	K562	blood:	n/a	n/a
23	POLR2A	chr5:177648258-177651864	GM12878	blood:	n/a	n/a
24	RAD21	chr5:177650657-177651077	H1-hESC	embryonic stem cell:	n/a	chr5:177651055-177651067 chr5:177651057-177651067
25	POLR2A	chr5:177648029-177652545	GM12878	blood:	n/a	n/a
26	CTCF	chr5:177650698-177651197	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr5:177649048-177651522	HEK293	kidney:	n/a	n/a
28	POLR2A	chr5:177647876-177651962	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr5:177649828-177651970	ECC-1	luminal epithelium:	n/a	n/a
30	SIN3A	chr5:177650555-177651175	H1-hESC	embryonic stem cell:	n/a	chr5:177651097-177651106
31	ZNF143	chr5:177650696-177651227	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr5:177650749-177651080	H1-hESC	embryonic stem cell:	n/a	n/a
33	TBP	chr5:177650758-177651046	H1-hESC	embryonic stem cell:	n/a	n/a
34	USF1	chr5:177650613-177651133	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr5:177647699-177653070	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr5:177647352-177652340	GM12892	blood:	n/a	n/a
37	USF2	chr5:177650486-177651087	H1-hESC	embryonic stem cell:	n/a	n/a
38	SP1	chr5:177650726-177651118	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr5:177650630-177651852	HepG2	liver:	n/a	n/a
40	POLR2A	chr5:177651024-177651597	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr5:177649875-177651847	MCF-7	breast:	n/a	n/a
42	POLR2A	chr5:177650503-177651808	K562	blood:	n/a	n/a
43	TEAD4	chr5:177650691-177651156	H1-hESC	embryonic stem cell:	n/a	n/a
44	GABPA	chr5:177650780-177651111	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr5:177650999-177651158	A549	lung:	n/a	n/a
46	USF1	chr5:177650765-177651074	K562	blood:	n/a	n/a
47	POLR2A	chr5:177648141-177652962	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr5:177650640-177651270	K562	blood:	n/a	n/a
49	POLR2A	chr5:177649222-177651910	GM18505	blood:	n/a	n/a
50	POLR2A	chr5:177650781-177651982	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
PHYKPL	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11738131	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs11740356	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs11747964	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs17639190	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs41285583	0.88[EUR][1000 genomes]
rs55812151	0.84[EUR][1000 genomes]
rs56727222	0.91[ASN][1000 genomes]
rs57358849	0.91[ASN][1000 genomes]
rs57594195	0.95[ASN][1000 genomes]
rs58209854	0.91[ASN][1000 genomes]
rs61473059	0.95[ASN][1000 genomes]
rs6881230	0.86[ASN][1000 genomes]
rs6899207	0.86[ASN][1000 genomes]
rs73351260	0.91[ASN][1000 genomes]
rs7707147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7718055	0.91[ASN][1000 genomes]
rs7719034	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177634400-177654200	Strong transcription	Fetal Stomach	stomach
2	chr5:177635800-177657000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr5:177636000-177654000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:177639400-177657600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:177640400-177655600	Weak transcription	Right Atrium	heart
6	chr5:177642600-177654200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:177643400-177651600	Weak transcription	HSMMtube	muscle
8	chr5:177643400-177656400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:177643600-177654400	Weak transcription	Aorta	Aorta
10	chr5:177643600-177655200	Weak transcription	Stomach Mucosa	stomach
11	chr5:177643800-177652200	Strong transcription	Liver	Liver
12	chr5:177643800-177653800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:177644000-177651400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:177644200-177654800	Weak transcription	NHDF-Ad	bronchial
15	chr5:177645400-177651400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr5:177645400-177651600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr5:177645400-177654800	Strong transcription	Hela-S3	cervix
18	chr5:177645400-177656800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr5:177645400-177656800	Strong transcription	Dnd41	blood
20	chr5:177645600-177654800	Weak transcription	HSMM	muscle
21	chr5:177646000-177651400	Weak transcription	NH-A	brain
22	chr5:177646000-177654400	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:177646200-177654000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:177646200-177657000	Weak transcription	Fetal Brain Male	brain
25	chr5:177646400-177652000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:177646600-177653000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:177646600-177657400	Strong transcription	Thymus	Thymus
28	chr5:177646800-177654400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:177646800-177658000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:177647400-177652400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr5:177647600-177653200	Strong transcription	A549	lung
32	chr5:177647600-177654400	Genic enhancers	Fetal Intestine Small	intestine
33	chr5:177647800-177652600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr5:177647800-177653000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:177647800-177657000	Strong transcription	Brain Germinal Matrix	brain
36	chr5:177648000-177651600	Genic enhancers	Fetal Muscle Leg	muscle
37	chr5:177648000-177654400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:177648000-177656000	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr5:177648000-177656800	Strong transcription	Primary B cells from cord blood	blood
40	chr5:177648000-177658000	Strong transcription	Fetal Thymus	thymus
41	chr5:177648200-177651200	Genic enhancers	Lung	lung
42	chr5:177648200-177651400	Strong transcription	Esophagus	oesophagus
43	chr5:177648200-177653000	Strong transcription	Brain Anterior Caudate	brain
44	chr5:177648200-177654800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:177648200-177657000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:177648200-177657000	Strong transcription	NHLF	lung
47	chr5:177648200-177657400	Strong transcription	Fetal Brain Female	brain
48	chr5:177648200-177657800	Genic enhancers	Fetal Intestine Large	intestine
49	chr5:177648400-177654600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr5:177648400-177654800	Strong transcription	NHEK	skin

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