Variant report

Variant	rs7703730
Chromosome Location	chr5:178986632-178986633
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:262)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr5:178986325-178986855	NT2-D1	testis:	n/a	chr5:178986551-178986559
2	YY1	chr5:178986258-178986912	ECC-1	luminal epithelium:	n/a	chr5:178986551-178986559
3	CHD1	chr5:178985618-178986945	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr5:178985457-178987460	SK-N-SH	brain:	n/a	n/a
5	NFYA	chr5:178986482-178986930	Hela-S3	cervix:	n/a	n/a
6	SIN3AK20	chr5:178986065-178987144	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr5:178985798-178987122	GM12878	blood:	n/a	n/a
8	YY1	chr5:178986331-178986698	HCT-116	colon:	n/a	chr5:178986551-178986559
9	TAF1	chr5:178985924-178986941	H1-hESC	embryonic stem cell:	n/a	n/a
10	STAT3	chr5:178986291-178986855	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr5:178986395-178987118	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr5:178986257-178987131	Gliobla	brain:	n/a	n/a
13	GTF2F1	chr5:178986337-178986705	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr5:178985889-178987010	A549	lung:	n/a	n/a
15	POLR2A	chr5:178986270-178987125	ECC-1	luminal epithelium:	n/a	n/a
16	TBP	chr5:178986329-178986776	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr5:178986261-178987092	A549	lung:	n/a	n/a
18	YY1	chr5:178986258-178986664	GM12892	blood:	n/a	chr5:178986551-178986559
19	SP1	chr5:178986183-178987120	A549	lung:	n/a	chr5:178986611-178986625 chr5:178986510-178986519 chr5:178986509-178986518 chr5:178986510-178986519 chr5:178986616-178986625 chr5:178986615-178986624 chr5:178986614-178986626 chr5:178986614-178986626
20	YY1	chr5:178986307-178986946	HepG2	liver:	n/a	chr5:178986551-178986559
21	MAX	chr5:178985914-178987175	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr5:178986334-178987012	HepG2	liver:	n/a	n/a
23	YY1	chr5:178986310-178986759	GM12878	blood:	n/a	chr5:178986551-178986559
24	STAT1	chr5:178986377-178986910	GM12878	blood:	n/a	n/a
25	EBF1	chr5:178986462-178986904	GM12878	blood:	n/a	n/a
26	TAF1	chr5:178986337-178986670	Hela-S3	cervix:	n/a	n/a
27	FOS	chr5:178985946-178986742	MCF10A-Er-Src	breast:	n/a	n/a
28	ELF1	chr5:178986353-178987142	GM12878	blood:	n/a	n/a
29	MYC	chr5:178985994-178986942	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr5:178986194-178987011	GM12892	blood:	n/a	n/a
31	SP4	chr5:178986008-178987045	H1-hESC	embryonic stem cell:	n/a	n/a
32	GABPA	chr5:178986379-178986939	A549	lung:	n/a	n/a
33	MAX	chr5:178986451-178986893	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr5:178985969-178987012	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr5:178986166-178987190	H1-neurons	neurons:	n/a	n/a
36	MYC	chr5:178985923-178987048	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr5:178986280-178986952	Hela-S3	cervix:	n/a	n/a
38	YY1	chr5:178986293-178986813	GM12878	blood:	n/a	chr5:178986551-178986559
39	POLR2A	chr5:178985826-178987315	SK-N-MC	brain:	n/a	n/a
40	ATF2	chr5:178985934-178986763	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr5:178985741-178987115	PANC-1	pancreas:	n/a	n/a
42	YY1	chr5:178985933-178986892	SK-N-SH	brain:	n/a	chr5:178986551-178986559
43	EP300	chr5:178986376-178986797	SK-N-SH_RA	brain:	n/a	n/a
44	YY1	chr5:178986228-178986836	A549	lung:	n/a	chr5:178986551-178986559
45	PML	chr5:178986339-178986641	GM12878	blood:	n/a	chr5:178986488-178986496
46	YY1	chr5:178985949-178986946	SK-N-SH_RA	brain:	n/a	chr5:178986551-178986559
47	POLR2A	chr5:178986007-178986911	GM12891	blood:	n/a	n/a
48	STAT3	chr5:178986521-178986804	MCF10A-Er-Src	breast:	n/a	n/a
49	JUND	chr5:178985893-178986979	H1-hESC	embryonic stem cell:	n/a	n/a
50	SP1	chr5:178985918-178987320	HCT-116	colon:	n/a	chr5:178986611-178986625 chr5:178986510-178986519 chr5:178986509-178986518 chr5:178986510-178986519 chr5:178986616-178986625 chr5:178986615-178986624 chr5:178986614-178986626 chr5:178986614-178986626

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178986620-178986670	HPAEpiC	pulmonary alveolar:	n/a
2	chr5:178986620-178986670	GM19239	blood:	n/a
3	chr5:178986620-178986670	NH-A	brain:	n/a
4	chr5:178986620-178986670	SK-N-SH_RA	brain:	n/a
5	chr5:178986620-178986670	HEK293	kidney:	embryo
6	chr5:178986620-178986670	Jurkat	blood:	n/a
7	chr5:178986620-178986670	BJ	skin:	n/a
8	chr5:178986620-178986670	HRPEpiC	eye:	n/a
9	chr5:178986620-178986670	HIPEpiC	eye:	n/a
10	chr5:178986620-178986670	AG04449	skin:	fetal
11	chr5:178986620-178986670	Hepatocyte	liver:	n/a
12	chr5:178986620-178986670	AG09319	gingival:	n/a
13	chr5:178986620-178986670	A549	lung:	n/a
14	chr5:178986620-178986670	HAEpiC	amniotic membrane:	n/a
15	chr5:178986620-178986670	K562	blood:	n/a
16	chr5:178986620-178986670	Caco-2	colon:	n/a
17	chr5:178986620-178986670	HRE	kidney:	n/a
18	chr5:178986620-178986670	HRCEpiC	kidney:	n/a
19	chr5:178986620-178986670	BE2_C	brain:	n/a
20	chr5:178986620-178986670	NHBE	bronchial:	n/a
21	chr5:178986620-178986670	HCT-116	colon:	n/a
22	chr5:178986620-178986670	GM06990	blood:	n/a
23	chr5:178986620-178986670	T-47D	breast:	n/a
24	chr5:178986620-178986670	HCM	heart:	n/a
25	chr5:178986620-178986670	NHDF-neo	bronchial:	n/a
26	chr5:178986620-178986670	IMR90	lung:	fetal
27	chr5:178986620-178986670	H1-hESC	embryonic stem cell:	embryo
28	chr5:178986620-178986670	CMK	blood:	n/a
29	chr5:178986620-178986670	HCPEpiC	choroid plexus:	n/a
30	chr5:178986620-178986670	GM12892	blood:	n/a
31	chr5:178986620-178986670	ovcar-3	ovarian:	n/a
32	chr5:178986620-178986670	PFSK-1	brain:	n/a
33	chr5:178986620-178986670	LNCaP	prostate:	n/a
34	chr5:178986620-178986670	MCF-7	breast:	n/a
35	chr5:178986620-178986670	AG04450	lung:	fetal
36	chr5:178986620-178986670	AG10803	skin:	n/a
37	chr5:178986620-178986670	AG09309	skin:	n/a
38	chr5:178986620-178986670	PrEC	prostate:	n/a
39	chr5:178986620-178986670	ECC-1	luminal epithelium:	n/a
40	chr5:178986620-178986670	SKMC	muscle:	n/a
41	chr5:178986620-178986670	PANC-1	pancreas:	n/a
42	chr5:178986620-178986670	RPTEC	kidney:	n/a
43	chr5:178986620-178986670	U87	brain:	n/a
44	chr5:178986620-178986670	NT2-D1	testis:	n/a
45	chr5:178986620-178986670	ProgFib	skin:	n/a
46	chr5:178986620-178986670	HL-60	blood:	n/a
47	chr5:178986620-178986670	SK-N-MC	brain:	n/a
48	chr5:178986620-178986670	HNPCEpiC	eye:	n/a
49	chr5:178986620-178986670	HCF	heart:	n/a
50	chr5:178986620-178986670	MCF10A-Er-Src	breast:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178986094..178988194-chr5:179049451..179052935,4	MCF-7	breast:
2	chr5:178984878..178986642-chr5:178988155..178989998,2	MCF-7	breast:
3	chr5:177630883..177632521-chr5:178985029..178986804,2	MCF-7	breast:
4	chr5:178985235..178987908-chr5:179124412..179127341,2	MCF-7	breast:
5	chr5:178984205..178987569-chr5:178988108..178992792,6	MCF-7	breast:
6	chr5:178984558..178987542-chr5:178988263..178990973,3	K562	blood:
7	chr5:178985192..178988541-chr5:179048594..179052191,5	MCF-7	breast:
8	chr5:178977809..178978321-chr5:178985908..178986661,2	MCF-7	breast:

No data

Variant related genes	Relation type
RUFY1	TF binding region
RUFY1	CpG island
ENSG00000169045	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000127022	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10064596	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10074573	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs10078712	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10078796	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10479542	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12652495	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12658664	1.00[CEU][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13179470	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13183521	0.86[ASN][1000 genomes]
rs4131080	0.85[CEU][hapmap]
rs4376229	0.81[CEU][hapmap]
rs4700835	0.88[ASN][1000 genomes]
rs4700836	0.88[ASN][1000 genomes]
rs4701130	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4701131	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4701132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6601050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6889447	0.86[CHB][hapmap]
rs6895321	0.81[ASN][1000 genomes]
rs6896112	0.88[ASN][1000 genomes]
rs6896940	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7702303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7704349	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7718673	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7723230	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7733389	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs7736163	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv531996	chr5:178669297-178989687	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
6	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
7	nsv1022509	chr5:178950829-179002751	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
10	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv1028236	chr5:178962087-179019981	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7703730	HNRPH1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178981200-178996200	Weak transcription	K562	blood
2	chr5:178985600-178986800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:178985600-178986800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr5:178985600-178987000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:178985600-178987000	Active TSS	Brain Germinal Matrix	brain
6	chr5:178985600-178987000	Active TSS	HSMM	muscle
7	chr5:178985600-178987200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:178985600-178987400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:178985600-178987400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:178985600-178987600	Active TSS	A549	lung
11	chr5:178985800-178986800	Active TSS	Duodenum Mucosa	Duodenum
12	chr5:178985800-178986800	Active TSS	Rectal Smooth Muscle	rectum
13	chr5:178985800-178986800	Active TSS	HSMMtube	muscle
14	chr5:178985800-178986800	Active TSS	NH-A	brain
15	chr5:178985800-178987000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr5:178985800-178987000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr5:178985800-178987000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:178985800-178987000	Active TSS	Brain Cingulate Gyrus	brain
19	chr5:178985800-178987000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr5:178985800-178987000	Active TSS	Brain Substantia Nigra	brain
21	chr5:178985800-178987000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr5:178985800-178987000	Active TSS	Fetal Lung	lung
23	chr5:178985800-178987000	Active TSS	Fetal Stomach	stomach
24	chr5:178985800-178987000	Active TSS	Right Atrium	heart
25	chr5:178985800-178987000	Active TSS	GM12878-XiMat	blood
26	chr5:178985800-178987000	Active TSS	NHDF-Ad	bronchial
27	chr5:178985800-178987000	Active TSS	NHLF	lung
28	chr5:178985800-178987200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr5:178985800-178987200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:178985800-178987200	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr5:178985800-178987200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:178985800-178987200	Active TSS	Fetal Intestine Large	intestine
33	chr5:178985800-178987400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr5:178985800-178987400	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr5:178985800-178987400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr5:178985800-178987400	Active TSS	Fetal Kidney	kidney
37	chr5:178985800-178987400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr5:178985800-178987400	Active TSS	HepG2	liver
39	chr5:178985800-178987600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:178986000-178986800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:178986000-178986800	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr5:178986000-178986800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:178986000-178986800	Active TSS	Pancreas	Pancrea
44	chr5:178986000-178986800	Active TSS	Psoas Muscle	Psoas
45	chr5:178986000-178986800	Active TSS	Right Ventricle	heart
46	chr5:178986000-178986800	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr5:178986000-178986800	Active TSS	HMEC	breast
48	chr5:178986000-178987000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr5:178986000-178987000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:178986000-178987000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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