Variant report

Variant	rs539246431
Chromosome Location	chr5:177019693-177019694
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	TAF1	chr5:177019005-177019716	HepG2	liver:	n/a	n/a
2	SPI1	chr5:177019546-177019988	HL-60	blood:	n/a	chr5:177019730-177019743 chr5:177019732-177019741 chr5:177019733-177019740 chr5:177019731-177019744
3	POLR2A	chr5:177018896-177019869	K562	blood:	n/a	n/a
4	POLR2A	chr5:177018971-177019758	GM12878	blood:	n/a	n/a
5	MAX	chr5:177018874-177019801	A549	lung:	n/a	chr5:177019689-177019699
6	POLR2A	chr5:177018826-177019733	PBDE	blood:	n/a	n/a
7	POLR2A	chr5:177018938-177019697	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:177018884-177019975	K562	blood:	n/a	n/a
9	ZNF263	chr5:177018977-177019829	HEK293-T-REx	kidney:	n/a	n/a
10	WRNIP1	chr5:177018864-177019835	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:177018878-177019758	HEK293	kidney:	n/a	n/a
12	POLR2A	chr5:177019005-177019796	GM12892	blood:	n/a	n/a
13	TBP	chr5:177018732-177019932	K562	blood:	n/a	n/a
14	MAX	chr5:177018806-177019873	K562	blood:	n/a	chr5:177019689-177019699
15	CREB1	chr5:177018813-177019723	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:177018989-177019872	K562	blood:	n/a	n/a
17	ZNF143	chr5:177018779-177019727	GM12878	blood:	n/a	chr5:177019134-177019152
18	POLR2A	chr5:177019508-177019926	PFSK-1	brain:	n/a	n/a
19	SMC3	chr5:177019598-177019796	HepG2	liver:	n/a	n/a
20	SPI1	chr5:177019628-177019804	K562	blood:	n/a	chr5:177019730-177019743 chr5:177019732-177019741 chr5:177019733-177019740 chr5:177019731-177019744
21	CREB1	chr5:177018842-177019849	H1-hESC	embryonic stem cell:	n/a	n/a
22	RCOR1	chr5:177018638-177020022	K562	blood:	n/a	n/a
23	POLR2A	chr5:177018995-177019851	GM18505	blood:	n/a	n/a
24	HCFC1	chr5:177018457-177020158	Hela-S3	cervix:	n/a	n/a
25	JUND	chr5:177018798-177019713	H1-hESC	embryonic stem cell:	n/a	n/a
26	GTF2F1	chr5:177018816-177019828	K562	blood:	n/a	n/a
27	EGR1	chr5:177019040-177019823	MCF-7	breast:	n/a	chr5:177019400-177019414 chr5:177019133-177019157 chr5:177019098-177019122
28	REST	chr5:177018906-177019743	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr5:177019002-177019832	NB4	blood:	n/a	n/a
30	SIN3AK20	chr5:177018973-177019875	K562	blood:	n/a	n/a
31	MAX	chr5:177018787-177019922	MCF-7	breast:	n/a	chr5:177019689-177019699
32	POLR2A	chr5:177018956-177019851	GM19099	blood:	n/a	n/a
33	CHD2	chr5:177018900-177019775	K562	blood:	n/a	n/a
34	POLR2A	chr5:177018913-177019748	MCF-7	breast:	n/a	n/a
35	POLR2A	chr5:177019036-177019839	GM12878	blood:	n/a	n/a
36	POLR2A	chr5:177019007-177019721	A549	lung:	n/a	n/a
37	POLR2A	chr5:177018848-177019769	GM12892	blood:	n/a	n/a
38	YY1	chr5:177018884-177019747	H1-hESC	embryonic stem cell:	n/a	chr5:177019205-177019225 chr5:177019155-177019164 chr5:177019177-177019191 chr5:177019192-177019206 chr5:177019190-177019201
39	HMGN3	chr5:177018989-177019888	K562	blood:	n/a	n/a
40	POLR2A	chr5:177018952-177019812	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr5:177018783-177020003	GM12891	blood:	n/a	n/a
42	MYC	chr5:177018935-177019865	NB4	blood:	n/a	chr5:177019689-177019699
43	POLR2A	chr5:177018952-177019844	K562	blood:	n/a	n/a
44	MAZ	chr5:177018914-177019800	HepG2	liver:	n/a	chr5:177019689-177019699
45	RFX5	chr5:177018990-177019807	Hela-S3	cervix:	n/a	n/a
46	SPI1	chr5:177019600-177019835	GM12891	blood:	n/a	chr5:177019730-177019743 chr5:177019732-177019741 chr5:177019733-177019740 chr5:177019731-177019744
47	GABPA	chr5:177018850-177019812	K562	blood:	n/a	chr5:177019186-177019200
48	IRF1	chr5:177018906-177019938	K562	blood:	n/a	n/a
49	SIN3A	chr5:177018880-177020000	H1-hESC	embryonic stem cell:	n/a	n/a
50	RCOR1	chr5:177018604-177019958	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:176805970..176807499-chr5:177018005..177019768,2	K562	blood:
2	chr5:176978290..176981747-chr5:177017313..177020640,7	MCF-7	breast:
3	chr5:176943414..176949809-chr5:177018256..177021226,8	MCF-7	breast:
4	chr5:176946312..176949197-chr5:177018379..177020484,2	K562	blood:
5	chr12:46383645..46384386-chr5:177019349..177019927,2	Hela-S3	cervix:
6	chr5:176979031..176980967-chr5:177019678..177022578,2	MCF-7	breast:
7	chr5:176959784..176964247-chr5:177018558..177022874,5	MCF-7	breast:
8	chr5:176923602..176926182-chr5:177017999..177019710,2	K562	blood:
9	chr5:176939485..176941829-chr5:177017923..177020658,4	MCF-7	breast:
10	chr12:32112363..32113149-chr5:177019226..177020019,2	NB4	blood:
11	chr5:176923095..176925209-chr5:177019148..177022259,3	MCF-7	breast:
12	chr5:177019232..177020994-chr5:177656791..177659399,2	K562	blood:
13	chr5:176942293..176944420-chr5:177019101..177021147,2	MCF-7	breast:
14	chr5:176980076..176982423-chr5:177017925..177021146,3	K562	blood:
15	chr1:93297145..93297889-chr5:177019241..177019876,2	HCT-116	colon:
16	chr5:176936816..176938708-chr5:177019651..177022498,2	MCF-7	breast:
17	chr5:176951222..176953772-chr5:177019144..177020770,2	MCF-7	breast:
18	chr5:177018435..177020960-chr5:177539226..177540753,2	MCF-7	breast:

Variant related genes	Relation type
TMED9	TF binding region
ENSG00000183258	Chromatin interaction
ENSG00000272459	Chromatin interaction
ENSG00000196923	Chromatin interaction
ENSG00000131183	Chromatin interaction
ENSG00000146094	Chromatin interaction
ENSG00000146067	Chromatin interaction
ENSG00000139218	Chromatin interaction
ENSG00000175309	Chromatin interaction
ENSG00000122406	Chromatin interaction
ENSG00000174718	Chromatin interaction
ENSG00000145911	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1022630	chr5:176975746-177028082	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv537966	chr5:176975746-177028082	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv883181	chr5:176978496-177034786	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	esv3348457	chr5:176995395-177020808	Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv883183	chr5:177019379-177030351	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr5:177018600-177019800	Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr5:177018600-177019800	Active TSS	Brain Anterior Caudate	brain
3	chr5:177018600-177019800	Active TSS	Brain Hippocampus Middle	brain
4	chr5:177018600-177019800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr5:177018600-177019800	Active TSS	Brain Substantia Nigra	brain
6	chr5:177018600-177019800	Active TSS	Duodenum Mucosa	Duodenum
7	chr5:177018600-177019800	Active TSS	Fetal Kidney	kidney
8	chr5:177018600-177019800	Active TSS	Stomach Smooth Muscle	stomach
9	chr5:177018600-177020000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:177018600-177020000	Active TSS	Fetal Lung	lung
11	chr5:177018600-177020200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr5:177018600-177020200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr5:177018600-177020200	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr5:177018600-177020200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:177018600-177020200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:177018600-177020200	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr5:177018600-177020400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr5:177018600-177020400	Active TSS	Rectal Smooth Muscle	rectum
19	chr5:177018600-177020400	Active TSS	HSMMtube	muscle
20	chr5:177018600-177020600	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr5:177018800-177019800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:177018800-177019800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:177018800-177019800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:177018800-177019800	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr5:177018800-177020000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr5:177018800-177020000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:177018800-177020000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:177018800-177020000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:177018800-177020000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:177018800-177020000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:177018800-177020000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:177018800-177020000	Active TSS	Brain Cingulate Gyrus	brain
33	chr5:177018800-177020000	Active TSS	Colonic Mucosa	Colon
34	chr5:177018800-177020000	Active TSS	Placenta	Placenta
35	chr5:177018800-177020000	Active TSS	Lung	lung
36	chr5:177018800-177020000	Active TSS	Ovary	ovary
37	chr5:177018800-177020000	Active TSS	Psoas Muscle	Psoas
38	chr5:177018800-177020000	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr5:177018800-177020200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr5:177018800-177020200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr5:177018800-177020200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr5:177018800-177020200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr5:177018800-177020200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:177018800-177020200	Active TSS	Aorta	Aorta
45	chr5:177018800-177020200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:177018800-177020200	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr5:177018800-177020200	Active TSS	Right Atrium	heart
48	chr5:177018800-177020200	Active TSS	Right Ventricle	heart
49	chr5:177018800-177020200	Active TSS	A549	lung
50	chr5:177018800-177020200	Active TSS	Hela-S3	cervix

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