Variant report

Variant	rs4647348
Chromosome Location	chr9:98080054-98080055
allele	A/C
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	POLR2A	chr9:98079558-98080224	A549	lung:	n/a	n/a
2	MAX	chr9:98079149-98080224	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr9:98079226-98080357	HepG2	liver:	n/a	n/a
4	POLR2A	chr9:98078881-98080518	HUVEC	blood vessel:	n/a	n/a
5	MAX	chr9:98079341-98080173	GM12878	blood:	n/a	n/a
6	CHD1	chr9:98079700-98080520	H1-hESC	embryonic stem cell:	n/a	chr9:98080173-98080183 chr9:98080061-98080071
7	MAX	chr9:98079133-98080421	HepG2	liver:	n/a	n/a
8	FOXM1	chr9:98079699-98080195	GM12878	blood:	n/a	n/a
9	MAX	chr9:98079544-98080260	H1-hESC	embryonic stem cell:	n/a	n/a
10	ELK4	chr9:98079741-98080363	Hela-S3	cervix:	n/a	n/a
11	TAF1	chr9:98079248-98080252	K562	blood:	n/a	n/a
12	TAF1	chr9:98079607-98080155	H1-neurons	neurons:	n/a	n/a
13	BHLHE40	chr9:98079628-98080251	K562	blood:	n/a	chr9:98080098-98080114 chr9:98080062-98080078 chr9:98080189-98080205
14	POLR2A	chr9:98079142-98080436	MCF-7	breast:	n/a	n/a
15	SIN3A	chr9:98079252-98080229	GM12878	blood:	n/a	chr9:98080192-98080201 chr9:98079792-98079803
16	MAFK	chr9:98079663-98080385	Hela-S3	cervix:	n/a	chr9:98079826-98079841
17	PML	chr9:98079596-98080384	MCF-7	breast:	n/a	n/a
18	TBP	chr9:98079818-98080332	GM12878	blood:	n/a	n/a
19	TAF1	chr9:98079015-98080339	ECC-1	luminal epithelium:	n/a	n/a
20	REST	chr9:98079604-98080325	HepG2	liver:	n/a	n/a
21	ZBTB33	chr9:98079463-98080301	SK-N-SH	brain:	n/a	chr9:98079689-98079699 chr9:98079814-98079829 chr9:98080006-98080016
22	GABPA	chr9:98079606-98080442	A549	lung:	n/a	chr9:98080069-98080078 chr9:98080008-98080017
23	E2F6	chr9:98079002-98080182	H1-hESC	embryonic stem cell:	n/a	chr9:98080030-98080037 chr9:98080151-98080166 chr9:98080030-98080037 chr9:98080157-98080172 chr9:98079221-98079233 chr9:98080155-98080166 chr9:98079277-98079287 chr9:98080155-98080165 chr9:98080156-98080164 chr9:98080155-98080164 chr9:98080069-98080078 chr9:98080030-98080037 chr9:98080156-98080167 chr9:98080156-98080163 chr9:98079931-98079939 chr9:98080152-98080166 chr9:98080156-98080163 chr9:98080156-98080164 chr9:98080156-98080163 chr9:98080026-98080038
24	MAZ	chr9:98078970-98080483	IMR90	lung:	n/a	n/a
25	EP300	chr9:98079057-98080381	K562	blood:	n/a	chr9:98080010-98080026 chr9:98080069-98080078
26	POLR2A	chr9:98078852-98080512	U87	brain:	n/a	n/a
27	POLR2A	chr9:98079324-98080404	A549	lung:	n/a	n/a
28	TAF1	chr9:98079610-98080330	H1-hESC	embryonic stem cell:	n/a	n/a
29	YY1	chr9:98079147-98080276	HepG2	liver:	n/a	chr9:98080066-98080080 chr9:98079303-98079314 chr9:98080006-98080020
30	POLR2A	chr9:98079080-98080375	NB4	blood:	n/a	n/a
31	POLR2A	chr9:98079566-98080389	HepG2	liver:	n/a	n/a
32	CREB1	chr9:98079084-98080324	A549	lung:	n/a	chr9:98079739-98079752
33	YY1	chr9:98079573-98080323	SK-N-SH_RA	brain:	n/a	chr9:98080066-98080080 chr9:98080006-98080020
34	TAF1	chr9:98079551-98080317	Hela-S3	cervix:	n/a	n/a
35	TBL1XR1	chr9:98079678-98080224	K562	blood:	n/a	n/a
36	MAX	chr9:98079146-98080213	K562	blood:	n/a	n/a
37	YY1	chr9:98079620-98080265	K562	blood:	n/a	chr9:98080066-98080080 chr9:98080006-98080020
38	ZNF143	chr9:98079196-98080309	Hela-S3	cervix:	n/a	chr9:98080191-98080201 chr9:98080069-98080079
39	PML	chr9:98079504-98080323	K562	blood:	n/a	n/a
40	FOXA2	chr9:98079847-98080266	A549	lung:	n/a	n/a
41	PML	chr9:98079516-98080283	MCF-7	breast:	n/a	n/a
42	POLR2A	chr9:98079113-98080391	GM12892	blood:	n/a	n/a
43	PML	chr9:98079493-98080369	K562	blood:	n/a	n/a
44	E2F4	chr9:98079069-98080320	Hela-S3	cervix:	n/a	chr9:98080030-98080037 chr9:98080027-98080038 chr9:98080151-98080166 chr9:98080030-98080037 chr9:98080157-98080172 chr9:98079221-98079233 chr9:98080155-98080166 chr9:98079277-98079287 chr9:98080155-98080165 chr9:98080156-98080164 chr9:98080155-98080164 chr9:98080069-98080078 chr9:98080030-98080037 chr9:98080156-98080167 chr9:98080156-98080163 chr9:98079931-98079939 chr9:98080152-98080166 chr9:98080156-98080163 chr9:98080156-98080164 chr9:98080156-98080163 chr9:98080026-98080038
45	SIN3AK20	chr9:98078983-98080525	MCF-7	breast:	n/a	n/a
46	ATF2	chr9:98079567-98080087	GM12878	blood:	n/a	n/a
47	ZBTB33	chr9:98079562-98080129	HepG2	liver:	n/a	chr9:98079689-98079699 chr9:98079814-98079829 chr9:98080006-98080016
48	EGR1	chr9:98079152-98080409	HCT-116	colon:	n/a	chr9:98080069-98080079 chr9:98079246-98079256 chr9:98080089-98080098
49	POLR2A	chr9:98078752-98081164	HepG2	liver:	n/a	n/a
50	TEAD4	chr9:98079543-98080258	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:35280409..35280963-chr9:98079723..98080710,2	Hela-S3	cervix:
2	chr11:67397311..67398283-chr9:98079612..98080233,2	NB4	blood:
3	chr9:98053145..98055941-chr9:98078860..98081367,2	MCF-7	breast:
4	chr9:98078160..98080305-chr9:98637483..98639375,2	MCF-7	breast:
5	chr19:58739918..58740656-chr9:98079479..98080269,2	Hela-S3	cervix:
6	chr12:54718630..54719580-chr9:98079060..98080316,3	Hela-S3	cervix:
7	chr9:98078552..98082181-chr9:98188850..98192317,4	MCF-7	breast:
8	chr9:98078123..98080907-chr9:98268002..98270715,3	K562	blood:
9	chr3:40498654..40499308-chr9:98079195..98080108,2	Hela-S3	cervix:
10	chr12:56360414..56361023-chr9:98079688..98080296,2	Hela-S3	cervix:
11	chr9:98078830..98081414-chr9:98266391..98270806,3	MCF-7	breast:
12	chr9:98078194..98081816-chr9:98277777..98279552,3	K562	blood:

Variant related genes	Relation type
FANCC	TF binding region
ENSG00000237857	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000111481	Chromatin interaction
ENSG00000230221	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000198131	Chromatin interaction
ENSG00000182150	Chromatin interaction
ENSG00000185920	Chromatin interaction
ENSG00000188846	Chromatin interaction
ENSG00000271155	Chromatin interaction
ENSG00000198146	Chromatin interaction
ENSG00000175611	Chromatin interaction
ENSG00000123374	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12683182	0.89[ASN][1000 genomes]
rs12684215	0.89[ASN][1000 genomes]
rs12685903	0.89[ASN][1000 genomes]
rs12686588	0.89[ASN][1000 genomes]
rs1875835	0.89[ASN][1000 genomes]
rs1886993	0.89[ASN][1000 genomes]
rs2121200	0.89[ASN][1000 genomes]
rs2404458	0.89[ASN][1000 genomes]
rs35108112	0.89[ASN][1000 genomes]
rs3780566	0.89[ASN][1000 genomes]
rs4647360	0.89[ASN][1000 genomes]
rs4647367	0.89[ASN][1000 genomes]
rs4647378	0.89[ASN][1000 genomes]
rs4647386	0.89[ASN][1000 genomes]
rs4647397	0.89[ASN][1000 genomes]
rs4647398	0.89[ASN][1000 genomes]
rs4647402	0.89[ASN][1000 genomes]
rs4647405	0.89[ASN][1000 genomes]
rs4647408	0.89[ASN][1000 genomes]
rs4647414	0.89[ASN][1000 genomes]
rs4647436	0.89[ASN][1000 genomes]
rs4647437	0.89[ASN][1000 genomes]
rs4647449	0.89[ASN][1000 genomes]
rs4647465	0.89[ASN][1000 genomes]
rs4647466	0.89[ASN][1000 genomes]
rs4647472	0.89[ASN][1000 genomes]
rs4647473	0.89[ASN][1000 genomes]
rs4647477	0.89[ASN][1000 genomes]
rs4647484	0.89[ASN][1000 genomes]
rs4647485	0.89[ASN][1000 genomes]
rs4647486	0.89[ASN][1000 genomes]
rs4647491	0.89[ASN][1000 genomes]
rs4647493	0.89[ASN][1000 genomes]
rs4647508	0.89[ASN][1000 genomes]
rs4647509	0.89[ASN][1000 genomes]
rs4647510	0.89[ASN][1000 genomes]
rs4647514	0.89[ASN][1000 genomes]
rs4647516	0.89[ASN][1000 genomes]
rs60228132	0.89[ASN][1000 genomes]
rs7037729	0.89[ASN][1000 genomes]
rs73530498	0.89[ASN][1000 genomes]
rs73532103	0.89[ASN][1000 genomes]
rs73534887	0.89[ASN][1000 genomes]
rs73534888	0.89[ASN][1000 genomes]
rs73534898	0.89[ASN][1000 genomes]
rs7854840	0.89[ASN][1000 genomes]
rs9792415	0.89[ASN][1000 genomes]
rs9792481	0.89[ASN][1000 genomes]
rs9792533	0.89[ASN][1000 genomes]
rs9792691	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831657	chr9:97959274-98204769	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 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	chr9:98077400-98080400	Active TSS	GM12878-XiMat	blood
2	chr9:98078400-98080400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:98078400-98080600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:98078400-98080800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:98078600-98080400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:98078600-98080400	Active TSS	Primary T cells from cord blood	blood
7	chr9:98078600-98080400	Active TSS	Colonic Mucosa	Colon
8	chr9:98078600-98080600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr9:98078600-98080600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr9:98078600-98080600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr9:98078600-98080600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:98078600-98080600	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr9:98078600-98080600	Active TSS	Fetal Brain Male	brain
14	chr9:98078600-98080600	Active TSS	Fetal Kidney	kidney
15	chr9:98078600-98080600	Active TSS	Fetal Muscle Trunk	muscle
16	chr9:98078600-98080600	Active TSS	Stomach Smooth Muscle	stomach
17	chr9:98078600-98080600	Active TSS	Thymus	Thymus
18	chr9:98078800-98080200	Active TSS	HepG2	liver
19	chr9:98078800-98080400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:98078800-98080400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr9:98078800-98080400	Active TSS	Fetal Intestine Small	intestine
22	chr9:98078800-98080400	Active TSS	Placenta Amnion	Placenta Amnion
23	chr9:98078800-98080400	Active TSS	Right Ventricle	heart
24	chr9:98078800-98080600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr9:98078800-98080600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:98078800-98080600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:98078800-98080600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:98078800-98080600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:98078800-98080600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:98078800-98080600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:98078800-98080600	Active TSS	Brain Cingulate Gyrus	brain
32	chr9:98078800-98080600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:98078800-98080600	Active TSS	Colon Smooth Muscle	Colon
34	chr9:98078800-98080600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr9:98078800-98080600	Active TSS	Fetal Intestine Large	intestine
36	chr9:98078800-98080600	Active TSS	Placenta	Placenta
37	chr9:98078800-98080600	Active TSS	Fetal Stomach	stomach
38	chr9:98078800-98080600	Active TSS	Psoas Muscle	Psoas
39	chr9:98078800-98080600	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr9:98078800-98080600	Active TSS	Rectal Smooth Muscle	rectum
41	chr9:98078800-98080600	Active TSS	Stomach Mucosa	stomach
42	chr9:98078800-98080600	Active TSS	A549	lung
43	chr9:98078800-98080600	Active TSS	HSMMtube	muscle
44	chr9:98078800-98080600	Active TSS	NHDF-Ad	bronchial
45	chr9:98078800-98080800	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr9:98078800-98080800	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr9:98079000-98080200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr9:98079000-98080200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:98079000-98080200	Active TSS	Liver	Liver
50	chr9:98079000-98080200	Active TSS	Fetal Heart	heart

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