Variant report

Variant	rs7222781
Chromosome Location	chr17:45177425-45177426
allele	C/G
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	JUN	chr17:45177052-45177958	K562	blood:	n/a	chr17:45177683-45177692 chr17:45177721-45177732
2	POLR2A	chr17:45177334-45177982	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr17:45177228-45178023	MCF-7	breast:	n/a	n/a
4	POLR2A	chr17:45177354-45177950	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr17:45177255-45178085	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:45177420-45177822	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr17:45176887-45178085	Raji	blood:	n/a	n/a
8	POLR2A	chr17:45177340-45177836	K562	blood:	n/a	n/a
9	POU2F2	chr17:45177423-45177965	GM12878	blood:	n/a	n/a
10	POLR2A	chr17:45177089-45177980	GM12892	blood:	n/a	n/a
11	SP1	chr17:45177270-45178064	A549	lung:	n/a	chr17:45177988-45178002 chr17:45177750-45177759 chr17:45177653-45177662 chr17:45177651-45177663 chr17:45177664-45177675 chr17:45177674-45177695 chr17:45177653-45177662 chr17:45177652-45177661 chr17:45177651-45177662
12	POLR2A	chr17:45177424-45177970	GM12892	blood:	n/a	n/a
13	ELF1	chr17:45177302-45177764	K562	blood:	n/a	n/a
14	POLR2A	chr17:45177305-45177954	HepG2	liver:	n/a	n/a
15	POLR2A	chr17:45177328-45177889	HL-60	blood:	n/a	n/a
16	YY1	chr17:45177181-45177902	HepG2	liver:	n/a	chr17:45177652-45177661
17	POLR2A	chr17:45177350-45177978	GM12892	blood:	n/a	n/a
18	POLR2A	chr17:45177345-45177992	GM18505	blood:	n/a	n/a
19	HEY1	chr17:45177396-45177884	K562	blood:	n/a	n/a
20	PAX5	chr17:45177330-45177593	GM12892	blood:	n/a	n/a
21	POLR2A	chr17:45177333-45177939	HUVEC	blood vessel:	n/a	n/a
22	MAX	chr17:45177378-45177976	A549	lung:	n/a	chr17:45177650-45177660
23	NR3C1	chr17:45177246-45177944	A549	lung:	n/a	n/a
24	STAT5A	chr17:45177424-45177669	GM12878	blood:	n/a	n/a
25	POLR2A	chr17:45177390-45177947	U87	brain:	n/a	n/a
26	MAX	chr17:45177330-45177798	Hela-S3	cervix:	n/a	chr17:45177650-45177660
27	EP300	chr17:45177408-45177622	GM12878	blood:	n/a	n/a
28	POLR2A	chr17:45177233-45177962	GM19193	blood:	n/a	n/a
29	ETS1	chr17:45177372-45177903	A549	lung:	n/a	chr17:45177650-45177661
30	POLR2A	chr17:45177268-45178019	H1-neurons	neurons:	n/a	n/a
31	MAX	chr17:45177167-45177976	HepG2	liver:	n/a	chr17:45177650-45177660
32	JUND	chr17:45177344-45177945	A549	lung:	n/a	chr17:45177683-45177692 chr17:45177721-45177732
33	SP2	chr17:45177345-45177996	HepG2	liver:	n/a	chr17:45177683-45177693 chr17:45177647-45177662 chr17:45177664-45177679
34	CHD2	chr17:45177396-45177943	Hela-S3	cervix:	n/a	n/a
35	ZBTB7A	chr17:45177363-45177650	HepG2	liver:	n/a	n/a
36	SP1	chr17:45177223-45178099	HCT-116	colon:	n/a	chr17:45177988-45178002 chr17:45177750-45177759 chr17:45177653-45177662 chr17:45177651-45177663 chr17:45177664-45177675 chr17:45177674-45177695 chr17:45177653-45177662 chr17:45177652-45177661 chr17:45177651-45177662
37	POLR2A	chr17:45177403-45178004	H1-hESC	embryonic stem cell:	n/a	n/a
38	RUNX3	chr17:45177372-45177776	GM12878	blood:	n/a	n/a
39	HCFC1	chr17:45177273-45178198	Hela-S3	cervix:	n/a	n/a
40	BCLAF1	chr17:45177412-45177731	GM12878	blood:	n/a	n/a
41	NFYB	chr17:45177339-45177843	GM12878	blood:	n/a	chr17:45177683-45177698 chr17:45177681-45177696 chr17:45177681-45177696
42	TAF1	chr17:45177389-45177914	PFSK-1	brain:	n/a	n/a
43	ZNF143	chr17:45177386-45177910	GM12878	blood:	n/a	n/a
44	SP1	chr17:45177400-45177964	K562	blood:	n/a	chr17:45177750-45177759 chr17:45177653-45177662 chr17:45177651-45177663 chr17:45177664-45177675 chr17:45177674-45177695 chr17:45177653-45177662 chr17:45177652-45177661 chr17:45177651-45177662
45	SP2	chr17:45177409-45177927	K562	blood:	n/a	chr17:45177683-45177693 chr17:45177647-45177662 chr17:45177664-45177679
46	POLR2A	chr17:45177414-45177857	PBDE	blood:	n/a	n/a
47	POLR2A	chr17:45177341-45177821	PANC-1	pancreas:	n/a	n/a
48	PBX3	chr17:45177381-45178012	SK-N-SH	brain:	n/a	chr17:45177684-45177693
49	POLR2A	chr17:45177351-45177976	ProgFib	skin:	n/a	n/a
50	YY1	chr17:45177367-45177944	SK-N-SH_RA	brain:	n/a	chr17:45177652-45177661

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:45177378-45177428	ovcar-3	ovarian:	n/a
2	chr17:45177378-45177428	GM12891	blood:	n/a
3	chr17:45177378-45177428	HRE	kidney:	n/a
4	chr17:45177378-45177428	HL-60	blood:	n/a
5	chr17:45177378-45177428	HEEpiC	esophagus:	n/a
6	chr17:45177378-45177428	BE2_C	brain:	n/a
7	chr17:45177378-45177428	SK-N-MC	brain:	n/a
8	chr17:45177378-45177428	SK-N-SH_RA	brain:	n/a
9	chr17:45177378-45177428	HUVEC	blood vessel:	n/a
10	chr17:45177378-45177428	CMK	blood:	n/a
11	chr17:45177378-45177428	SAEC	small airway:	n/a
12	chr17:45177378-45177428	GM19239	blood:	n/a
13	chr17:45177378-45177428	Hela-S3	cervix:	n/a
14	chr17:45177378-45177428	AG04450	lung:	fetal
15	chr17:45177378-45177428	ProgFib	skin:	n/a
16	chr17:45177378-45177428	BJ	skin:	n/a
17	chr17:45177378-45177428	A549	lung:	n/a
18	chr17:45177378-45177428	HPAEpiC	pulmonary alveolar:	n/a
19	chr17:45177378-45177428	SKMC	muscle:	n/a
20	chr17:45177378-45177428	SK-N-SH	brain:	n/a
21	chr17:45177378-45177428	AG10803	skin:	n/a
22	chr17:45177378-45177428	HRCEpiC	kidney:	n/a
23	chr17:45177378-45177428	HEK293	kidney:	embryo
24	chr17:45177378-45177428	U87	brain:	n/a
25	chr17:45177378-45177428	PFSK-1	brain:	n/a
26	chr17:45177378-45177428	HNPCEpiC	eye:	n/a
27	chr17:45177378-45177428	HIPEpiC	eye:	n/a
28	chr17:45177378-45177428	GM12878	blood:	n/a
29	chr17:45177378-45177428	K562	blood:	n/a
30	chr17:45177378-45177428	T-47D	breast:	n/a
31	chr17:45177378-45177428	LNCaP	prostate:	n/a
32	chr17:45177378-45177428	AG09319	gingival:	n/a
33	chr17:45177378-45177428	Hepatocyte	liver:	n/a
34	chr17:45177378-45177428	RPTEC	kidney:	n/a
35	chr17:45177378-45177428	NB4	blood:	n/a
36	chr17:45177378-45177428	Jurkat	blood:	n/a
37	chr17:45177378-45177428	HRPEpiC	eye:	n/a
38	chr17:45177378-45177428	HCM	heart:	n/a
39	chr17:45177378-45177428	HCPEpiC	choroid plexus:	n/a
40	chr17:45177378-45177428	PrEC	prostate:	n/a
41	chr17:45177378-45177428	ECC-1	luminal epithelium:	n/a
42	chr17:45177378-45177428	NH-A	brain:	n/a
43	chr17:45177378-45177428	H1-hESC	embryonic stem cell:	embryo
44	chr17:45177378-45177428	NT2-D1	testis:	n/a
45	chr17:45177378-45177428	Caco-2	colon:	n/a
46	chr17:45177378-45177428	PANC-1	pancreas:	n/a
47	chr17:45177378-45177428	HCF	heart:	n/a
48	chr17:45177378-45177428	HCT-116	colon:	n/a
49	chr17:45177378-45177428	HepG2	liver:	n/a
50	chr17:45177378-45177428	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:44302347..44303352-chr17:45177408..45178065,4	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPRML-3	chr17:45177201-45177614	ENSG00000262879.1
2	lnc-RPRML-3	chr17:45177201-45177605	ENSG00000262879.1
3	lnc-RPRML-3	chr17:45177201-45177614	NONHSAT054277
4	lnc-RPRML-3	chr17:45177201-45177560	NONHSAT054278
5	lnc-RPRML-3	chr17:45177201-45177631	NONHSAT054279
6	lnc-RPRML-3	chr17:45176744-45177617	NONHSAT054281

Variant related genes	Relation type
ENSG00000262879	TF binding region
ENSG00000262879	CpG island
ENSG00000120071	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10514915	0.94[ASN][1000 genomes]
rs11079748	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11079750	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11079752	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11649887	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11654517	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11658350	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11871052	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11871364	0.86[EUR][1000 genomes]
rs12603447	0.91[ASN][1000 genomes]
rs12939753	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12942936	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12949929	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12950276	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12950699	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1634260	0.94[ASN][1000 genomes]
rs2007723	0.89[ASN][1000 genomes]
rs2316331	0.92[ASN][1000 genomes]
rs2317376	0.94[ASN][1000 genomes]
rs2873131	0.94[ASN][1000 genomes]
rs34038545	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34314554	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34710835	0.96[ASN][1000 genomes]
rs35721448	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4074247	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4074249	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4968253	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4968301	0.82[ASN][1000 genomes]
rs4968304	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56362502	0.84[ASN][1000 genomes]
rs7207418	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7214785	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7215573	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7215903	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7215907	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7219544	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7219899	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7220777	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8077021	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9889451	0.91[ASN][1000 genomes]
rs9899078	0.94[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	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv522797	chr17:45084279-45183152	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3332795	chr17:45116212-45209297	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3386521	chr17:45116232-45209267	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1059766	chr17:45130765-45203468	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv521632	chr17:45151549-45196190	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv962456	chr17:45163689-45212872	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7222781	GOSR2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45175600-45178200	Active TSS	GM12878-XiMat	blood
2	chr17:45176000-45178000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:45176200-45177600	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr17:45176200-45178000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr17:45176200-45178000	Active TSS	NHLF	lung
6	chr17:45176200-45178200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr17:45176200-45178200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr17:45176200-45178200	Active TSS	Brain Angular Gyrus	brain
9	chr17:45176200-45178200	Active TSS	Fetal Brain Female	brain
10	chr17:45176400-45178000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr17:45176400-45178000	Active TSS	Colonic Mucosa	Colon
12	chr17:45176400-45178200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:45176400-45178400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:45176400-45178400	Active TSS	Brain Germinal Matrix	brain
15	chr17:45176400-45178400	Active TSS	Rectal Smooth Muscle	rectum
16	chr17:45176600-45177600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr17:45176600-45177600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr17:45176600-45178000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:45176600-45178000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr17:45176600-45178000	Active TSS	NH-A	brain
21	chr17:45176600-45178000	Active TSS	NHDF-Ad	bronchial
22	chr17:45176600-45178200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr17:45176600-45178200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr17:45176600-45178200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr17:45176600-45178200	Active TSS	Brain Anterior Caudate	brain
26	chr17:45176600-45178200	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr17:45176600-45178200	Active TSS	HMEC	breast
28	chr17:45176600-45178400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr17:45176800-45177600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:45176800-45178000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr17:45176800-45178000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr17:45176800-45178000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:45176800-45178000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr17:45176800-45178000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:45176800-45178000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:45176800-45178000	Active TSS	Gastric	stomach
37	chr17:45176800-45178000	Active TSS	Pancreas	Pancrea
38	chr17:45176800-45178000	Active TSS	Psoas Muscle	Psoas
39	chr17:45176800-45178000	Active TSS	Right Ventricle	heart
40	chr17:45176800-45178000	Active TSS	Stomach Mucosa	stomach
41	chr17:45176800-45178000	Active TSS	HSMM	muscle
42	chr17:45176800-45178000	Active TSS	HSMMtube	muscle
43	chr17:45176800-45178200	Active TSS	Brain Substantia Nigra	brain
44	chr17:45176800-45178200	Active TSS	Fetal Kidney	kidney
45	chr17:45176800-45178200	Active TSS	Ovary	ovary
46	chr17:45176800-45178200	Active TSS	Right Atrium	heart
47	chr17:45176800-45178200	Active TSS	A549	lung
48	chr17:45177000-45177800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:45177000-45177800	Active TSS	Spleen	Spleen
50	chr17:45177000-45178000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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