Variant report

Variant	rs7580048
Chromosome Location	chr2:97304180-97304181
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:580)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:97303061-97304531	GM12878	blood:	n/a	n/a
2	BCLAF1	chr2:97303826-97304393	GM12878	blood:	n/a	chr2:97304257-97304266
3	RAD21	chr2:97303837-97304372	H1-hESC	embryonic stem cell:	n/a	chr2:97304359-97304369 chr2:97304357-97304369
4	CEBPD	chr2:97303459-97304320	HepG2	liver:	n/a	n/a
5	HEY1	chr2:97302329-97304455	K562	blood:	n/a	n/a
6	TAF1	chr2:97303971-97304307	GM12891	blood:	n/a	n/a
7	PAX5	chr2:97303976-97304281	GM12878	blood:	n/a	n/a
8	TAF1	chr2:97303302-97304374	K562	blood:	n/a	n/a
9	E2F6	chr2:97303339-97304605	A549	lung:	n/a	chr2:97304155-97304163
10	TBP	chr2:97303106-97304425	K562	blood:	n/a	n/a
11	EP300	chr2:97303722-97304522	SK-N-SH	brain:	n/a	n/a
12	EP300	chr2:97303875-97304376	HepG2	liver:	n/a	n/a
13	MAX	chr2:97302470-97304409	NB4	blood:	n/a	n/a
14	MXI1	chr2:97302730-97304428	GM12878	blood:	n/a	n/a
15	RFX5	chr2:97302776-97304712	IMR90	lung:	n/a	n/a
16	USF1	chr2:97303914-97304336	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F4	chr2:97303303-97304373	MCF10A-Er-Src	breast:	n/a	chr2:97304155-97304163 chr2:97303629-97303640
18	POLR2A	chr2:97302395-97304360	K562	blood:	n/a	n/a
19	MEF2A	chr2:97303562-97304369	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:97302133-97304590	K562	blood:	n/a	n/a
21	SP1	chr2:97303402-97304477	K562	blood:	n/a	n/a
22	ZBTB33	chr2:97303908-97304385	A549	lung:	n/a	n/a
23	YY1	chr2:97303914-97304358	GM12891	blood:	n/a	n/a
24	CTCF	chr2:97304140-97304290	HepG2	liver:	n/a	n/a
25	CHD2	chr2:97303026-97304356	K562	blood:	n/a	n/a
26	MAX	chr2:97303885-97304404	SK-N-SH	brain:	n/a	n/a
27	ELF1	chr2:97303848-97304560	GM12878	blood:	n/a	chr2:97304112-97304125 chr2:97304116-97304125
28	POLR2A	chr2:97302993-97304502	HUVEC	blood vessel:	n/a	n/a
29	CCNT2	chr2:97303237-97304317	K562	blood:	n/a	n/a
30	POLR2A	chr2:97303874-97304350	GM12891	blood:	n/a	n/a
31	KAP1	chr2:97303970-97304576	HEK293	kidney:	n/a	n/a
32	CTCF	chr2:97304104-97304194	Fibrobl	skin:	n/a	n/a
33	CREB1	chr2:97303038-97304656	HepG2	liver:	n/a	n/a
34	ETS1	chr2:97303437-97304384	K562	blood:	n/a	chr2:97303983-97303996
35	SP1	chr2:97303280-97304635	HCT-116	colon:	n/a	n/a
36	TCF12	chr2:97303030-97304631	A549	lung:	n/a	chr2:97303499-97303508
37	POLR2A	chr2:97303864-97304456	GM12892	blood:	n/a	n/a
38	BCLAF1	chr2:97303846-97304370	GM12878	blood:	n/a	chr2:97304257-97304266
39	SIN3AK20	chr2:97303939-97304312	K562	blood:	n/a	n/a
40	SP1	chr2:97303865-97304365	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr2:97303920-97304357	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZBTB33	chr2:97303864-97304331	A549	lung:	n/a	n/a
43	YY1	chr2:97303933-97304447	H1-hESC	embryonic stem cell:	n/a	n/a
44	POU2F2	chr2:97303880-97304331	GM12878	blood:	n/a	n/a
45	MYC	chr2:97303976-97304416	MCF10A-Er-Src	breast:	n/a	n/a
46	PAX5	chr2:97303527-97304350	GM12892	blood:	n/a	n/a
47	POLR2A	chr2:97303298-97304487	GM12878	blood:	n/a	n/a
48	YY1	chr2:97303875-97304384	SK-N-SH_RA	brain:	n/a	n/a
49	TCF12	chr2:97303968-97304251	H1-hESC	embryonic stem cell:	n/a	n/a
50	TAF1	chr2:97303860-97304452	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97302043..97304772-chr2:97480834..97485283,4	K562	blood:
2	chr2:97292796..97298372-chr2:97302534..97305789,7	MCF-7	breast:
3	chr2:97299733..97305587-chr2:97422203..97428186,8	K562	blood:
4	chr2:97272041..97273966-chr2:97302797..97305415,2	MCF-7	breast:
5	chr14:55493366..55494237-chr2:97304134..97304874,2	Hela-S3	cervix:
6	chr2:97303569..97304197-chr5:138533561..138534261,2	Hela-S3	cervix:
7	chr2:97300473..97305040-chr2:97425563..97430425,4	MCF-7	breast:
8	chr2:97303356..97305240-chr2:97403490..97407519,4	MCF-7	breast:
9	chr2:97303569..97304549-chr5:38556837..38557415,2	Hela-S3	cervix:
10	chr2:97262402..97266191-chr2:97301270..97305062,4	K562	blood:
11	chr2:97275521..97278497-chr2:97303256..97305741,2	K562	blood:
12	chr2:97303822..97304697-chr3:101567998..101568844,2	Hela-S3	cervix:
13	chr2:97299733..97305587-chr2:97425305..97429139,7	K562	blood:
14	chr2:97202384..97205156-chr2:97302029..97304901,3	K562	blood:
15	chr2:97202384..97205156-chr2:97301374..97305632,4	K562	blood:
16	chr2:97271896..97274610-chr2:97303507..97305087,2	K562	blood:
17	chr11:66610397..66611005-chr2:97303824..97304693,2	Hela-S3	cervix:
18	chr17:56756534..56757200-chr2:97303487..97304300,3	HCT-116	colon:
19	chr2:97303859..97305572-chr2:97481972..97484956,2	K562	blood:
20	chr2:97302399..97305389-chr2:97622198..97624620,2	K562	blood:
21	chr2:97301517..97305285-chr2:97426115..97429843,6	MCF-7	breast:
22	chr2:97302952..97305022-chr2:97481063..97483448,2	MCF-7	breast:
23	chr2:97302401..97304754-chr2:97481583..97484330,2	MCF-7	breast:

No data

Variant related genes	Relation type
FER1L5	TF binding region
KANSL3	TF binding region
ENSG00000180008	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000120725	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000196843	Chromatin interaction
ENSG00000252845	Chromatin interaction
ENSG00000114988	Chromatin interaction
ENSG00000244968	Chromatin interaction
ENSG00000200997	Chromatin interaction
ENSG00000198554	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10460601	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11164109	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11677722	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11678174	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11682934	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11691670	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12469420	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12471390	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12477059	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2278563	0.84[EUR][1000 genomes]
rs4907240	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4907241	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4907242	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4907246	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62154845	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62156200	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66727130	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6747149	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6749159	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6759099	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7575254	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7600903	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[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	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7580048	CIAO1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97301600-97304600	Active TSS	Psoas Muscle	Psoas
2	chr2:97302200-97304600	Active TSS	Aorta	Aorta
3	chr2:97302400-97304600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr2:97302400-97304600	Active TSS	Ovary	ovary
5	chr2:97302400-97304600	Active TSS	HSMM	muscle
6	chr2:97302600-97304600	Active TSS	A549	lung
7	chr2:97302800-97304200	Active TSS	HSMMtube	muscle
8	chr2:97302800-97304400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:97302800-97304400	Active TSS	Gastric	stomach
10	chr2:97302800-97304400	Active TSS	Pancreas	Pancrea
11	chr2:97302800-97304600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr2:97302800-97304600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:97303000-97304200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr2:97303000-97304200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:97303000-97304200	Active TSS	Colonic Mucosa	Colon
16	chr2:97303000-97304200	Active TSS	Duodenum Mucosa	Duodenum
17	chr2:97303000-97304200	Active TSS	Fetal Intestine Small	intestine
18	chr2:97303000-97304200	Active TSS	Fetal Muscle Trunk	muscle
19	chr2:97303000-97304200	Active TSS	Lung	lung
20	chr2:97303000-97304200	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr2:97303000-97304200	Active TSS	Stomach Smooth Muscle	stomach
22	chr2:97303000-97304200	Active TSS	GM12878-XiMat	blood
23	chr2:97303000-97304400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:97303000-97304400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr2:97303000-97304400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:97303000-97304400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:97303000-97304400	Active TSS	Left Ventricle	heart
28	chr2:97303000-97304400	Active TSS	Rectal Smooth Muscle	rectum
29	chr2:97303000-97304400	Active TSS	Right Atrium	heart
30	chr2:97303000-97304400	Active TSS	Right Ventricle	heart
31	chr2:97303000-97304400	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr2:97303000-97304400	Active TSS	Stomach Mucosa	stomach
33	chr2:97303000-97304600	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr2:97303000-97304600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:97303000-97304600	Active TSS	H9 Cell Line	embryonic stem cell
36	chr2:97303000-97304600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:97303000-97304600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr2:97303000-97304600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:97303000-97304600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:97303000-97304600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:97303000-97304600	Active TSS	Colon Smooth Muscle	Colon
42	chr2:97303000-97304600	Active TSS	Esophagus	oesophagus
43	chr2:97303000-97304600	Active TSS	Fetal Kidney	kidney
44	chr2:97303000-97304600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr2:97303000-97304600	Active TSS	NHDF-Ad	bronchial
46	chr2:97303200-97304200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:97303200-97304200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:97303200-97304200	Active TSS	Primary monocytes fromperipheralblood	blood
49	chr2:97303200-97304200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:97303200-97304200	Active TSS	Primary T helper naive cells from peripheral blood	blood

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