Variant report

Variant	rs1151016
Chromosome Location	chr12:32259367-32259368
allele	A/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	TCF12	chr12:32259285-32260142	ECC-1	luminal epithelium:	n/a	chr12:32259813-32259823 chr12:32259311-32259321
2	MYC	chr12:32259162-32260256	A549	lung:	n/a	chr12:32259462-32259471 chr12:32259744-32259753
3	ELF1	chr12:32259105-32260562	GM12878	blood:	n/a	chr12:32260111-32260123 chr12:32259691-32259703 chr12:32259948-32259960 chr12:32259945-32259957 chr12:32259518-32259530
4	MTA3	chr12:32258971-32259502	GM12878	blood:	n/a	n/a
5	MAX	chr12:32259229-32260546	K562	blood:	n/a	chr12:32259462-32259471 chr12:32259744-32259753
6	POLR2A	chr12:32259344-32260148	A549	lung:	n/a	n/a
7	EGR1	chr12:32259297-32259949	MCF-7	breast:	n/a	chr12:32259460-32259473 chr12:32259517-32259531 chr12:32259520-32259533 chr12:32259521-32259530 chr12:32259520-32259530 chr12:32259519-32259533 chr12:32259521-32259531 chr12:32259519-32259534 chr12:32259520-32259533 chr12:32259520-32259533 chr12:32259521-32259532 chr12:32259515-32259537 chr12:32259520-32259533
8	RAD21	chr12:32259300-32260008	H1-hESC	embryonic stem cell:	n/a	chr12:32259722-32259732 chr12:32259806-32259820 chr12:32259792-32259806 chr12:32259602-32259616 chr12:32259600-32259614
9	YY1	chr12:32259367-32260255	HepG2	liver:	n/a	chr12:32259947-32259961 chr12:32260056-32260068 chr12:32259550-32259561 chr12:32259950-32259964 chr12:32259720-32259729
10	ZNF263	chr12:32259205-32261183	HEK293-T-REx	kidney:	n/a	chr12:32259812-32259833 chr12:32259509-32259518
11	TAF7	chr12:32259304-32260522	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:32259268-32260139	HUVEC	blood vessel:	n/a	n/a
13	EGR1	chr12:32259092-32260049	HCT-116	colon:	n/a	chr12:32259460-32259473 chr12:32259517-32259531 chr12:32259520-32259533 chr12:32259521-32259530 chr12:32259520-32259530 chr12:32259519-32259533 chr12:32259521-32259531 chr12:32259519-32259534 chr12:32259520-32259533 chr12:32259520-32259533 chr12:32259521-32259532 chr12:32259515-32259537 chr12:32259520-32259533
14	POLR2A	chr12:32259293-32260577	ECC-1	luminal epithelium:	n/a	n/a
15	CHD2	chr12:32259307-32260540	GM12878	blood:	n/a	chr12:32259718-32259728 chr12:32260031-32260041
16	POLR2A	chr12:32259344-32260164	PBDE	blood:	n/a	n/a
17	HA-E2F1	chr12:32259044-32260159	MCF-7	breast:	n/a	chr12:32259720-32259729 chr12:32260116-32260125 chr12:32259516-32259528 chr12:32259717-32259729
18	RUNX3	chr12:32259100-32260865	GM12878	blood:	n/a	n/a
19	SMC3	chr12:32258968-32261442	SK-N-SH	brain:	n/a	chr12:32259600-32259614 chr12:32259992-32260002 chr12:32260107-32260114 chr12:32259722-32259732
20	MAX	chr12:32259305-32260393	NB4	blood:	n/a	chr12:32259462-32259471 chr12:32259744-32259753
21	ZBTB7A	chr12:32259105-32260522	ECC-1	luminal epithelium:	n/a	n/a
22	MXI1	chr12:32259219-32260627	IMR90	lung:	n/a	chr12:32259312-32259321
23	PBX3	chr12:32259331-32260097	SK-N-SH	brain:	n/a	n/a
24	MAX	chr12:32259205-32260421	ECC-1	luminal epithelium:	n/a	chr12:32259462-32259471 chr12:32259744-32259753
25	E2F6	chr12:32259136-32260413	K562	blood:	n/a	chr12:32259720-32259729 chr12:32260116-32260125 chr12:32259516-32259528 chr12:32259717-32259729
26	POLR2A	chr12:32259145-32262099	IMR90	lung:	n/a	n/a
27	POLR2A	chr12:32259292-32260114	ECC-1	luminal epithelium:	n/a	n/a
28	CTBP2	chr12:32259260-32260509	H1-hESC	embryonic stem cell:	n/a	n/a
29	SIN3A	chr12:32259293-32261364	H1-hESC	embryonic stem cell:	n/a	chr12:32259978-32259989
30	EP300	chr12:32259104-32259930	K562	blood:	n/a	chr12:32259520-32259536 chr12:32259725-32259741 chr12:32259386-32259396 chr12:32259729-32259745 chr12:32259521-32259537
31	MAX	chr12:32259038-32260640	ECC-1	luminal epithelium:	n/a	chr12:32259462-32259471 chr12:32259744-32259753
32	ZMIZ1	chr12:32259047-32260000	K562	blood:	n/a	n/a
33	MAZ	chr12:32259054-32261096	K562	blood:	n/a	chr12:32259462-32259471 chr12:32259744-32259753
34	POLR2A	chr12:32259306-32259936	SK-N-SH	brain:	n/a	n/a
35	MAX	chr12:32259321-32260190	H1-hESC	embryonic stem cell:	n/a	chr12:32259462-32259471 chr12:32259744-32259753
36	TCF12	chr12:32259251-32261175	A549	lung:	n/a	chr12:32259813-32259823 chr12:32259311-32259321
37	CTCF	chr12:32259302-32261239	SK-N-SH	brain:	n/a	chr12:32259599-32259615 chr12:32259598-32259616 chr12:32259723-32259733 chr12:32259600-32259613 chr12:32259722-32259735
38	EGR1	chr12:32259332-32259776	GM12878	blood:	n/a	chr12:32259460-32259473 chr12:32259517-32259531 chr12:32259520-32259533 chr12:32259521-32259530 chr12:32259520-32259530 chr12:32259519-32259533 chr12:32259521-32259531 chr12:32259519-32259534 chr12:32259520-32259533 chr12:32259520-32259533 chr12:32259521-32259532 chr12:32259515-32259537 chr12:32259520-32259533
39	RCOR1	chr12:32259120-32261463	K562	blood:	n/a	n/a
40	POLR2A	chr12:32259357-32260154	Gliobla	brain:	n/a	n/a
41	RAD21	chr12:32259355-32260002	H1-hESC	embryonic stem cell:	n/a	chr12:32259722-32259732 chr12:32259806-32259820 chr12:32259792-32259806 chr12:32259602-32259616 chr12:32259600-32259614
42	POLR2A	chr12:32259283-32260986	GM12878	blood:	n/a	n/a
43	MAZ	chr12:32259350-32260849	GM12878	blood:	n/a	chr12:32259462-32259471 chr12:32259744-32259753
44	MAX	chr12:32259291-32260165	K562	blood:	n/a	chr12:32259744-32259753 chr12:32259462-32259471
45	POLR2A	chr12:32259338-32260092	MCF10A-Er-Src	breast:	n/a	n/a
46	EGR1	chr12:32259199-32259939	ECC-1	luminal epithelium:	n/a	chr12:32259460-32259473 chr12:32259517-32259531 chr12:32259520-32259533 chr12:32259521-32259530 chr12:32259520-32259530 chr12:32259519-32259533 chr12:32259521-32259531 chr12:32259519-32259534 chr12:32259520-32259533 chr12:32259520-32259533 chr12:32259521-32259532 chr12:32259515-32259537 chr12:32259520-32259533
47	RAD21	chr12:32259278-32259801	A549	lung:	n/a	chr12:32259722-32259732 chr12:32259602-32259616 chr12:32259600-32259614
48	BCLAF1	chr12:32259283-32259958	GM12878	blood:	n/a	chr12:32259690-32259699 chr12:32259552-32259561 chr12:32259939-32259952
49	HA-E2F1	chr12:32259353-32260035	Hela-S3	cervix:	n/a	chr12:32259720-32259729 chr12:32259516-32259528 chr12:32259717-32259729
50	MYC	chr12:32259362-32260193	NB4	blood:	n/a	chr12:32259462-32259471 chr12:32259744-32259753

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:32259338-32259388	RPTEC	kidney:	n/a
2	chr12:32259338-32259388	HUVEC	blood vessel:	n/a
3	chr12:32259338-32259388	H1-hESC	embryonic stem cell:	embryo
4	chr12:32259338-32259388	AG04450	lung:	fetal
5	chr12:32259338-32259388	CMK	blood:	n/a
6	chr12:32259338-32259388	NB4	blood:	n/a
7	chr12:32259338-32259388	AG04449	skin:	fetal
8	chr12:32259338-32259388	ovcar-3	ovarian:	n/a
9	chr12:32259338-32259388	ECC-1	luminal epithelium:	n/a
10	chr12:32259338-32259388	ProgFib	skin:	n/a
11	chr12:32259338-32259388	HL-60	blood:	n/a
12	chr12:32259338-32259388	SAEC	small airway:	n/a
13	chr12:32259338-32259388	NH-A	brain:	n/a
14	chr12:32259338-32259388	A549	lung:	n/a
15	chr12:32259338-32259388	HepG2	liver:	n/a
16	chr12:32259338-32259388	Hepatocyte	liver:	n/a
17	chr12:32259338-32259388	HAEpiC	amniotic membrane:	n/a
18	chr12:32259338-32259388	BJ	skin:	n/a
19	chr12:32259338-32259388	HRCEpiC	kidney:	n/a
20	chr12:32259338-32259388	MCF-7	breast:	n/a
21	chr12:32259338-32259388	Jurkat	blood:	n/a
22	chr12:32259338-32259388	SK-N-SH	brain:	n/a
23	chr12:32259338-32259388	AG10803	skin:	n/a
24	chr12:32259338-32259388	HRE	kidney:	n/a
25	chr12:32259338-32259388	IMR90	lung:	fetal
26	chr12:32259338-32259388	HCM	heart:	n/a
27	chr12:32259338-32259388	PFSK-1	brain:	n/a
28	chr12:32259338-32259388	HCPEpiC	choroid plexus:	n/a
29	chr12:32259338-32259388	NHBE	bronchial:	n/a
30	chr12:32259338-32259388	PrEC	prostate:	n/a
31	chr12:32259338-32259388	GM06990	blood:	n/a
32	chr12:32259338-32259388	K562	blood:	n/a
33	chr12:32259338-32259388	HCT-116	colon:	n/a
34	chr12:32259338-32259388	HCF	heart:	n/a
35	chr12:32259338-32259388	U87	brain:	n/a
36	chr12:32259338-32259388	HMEC	breast:	n/a
37	chr12:32259338-32259388	NHDF-neo	bronchial:	n/a
38	chr12:32259338-32259388	Caco-2	colon:	n/a
39	chr12:32259338-32259388	GM12878	blood:	n/a
40	chr12:32259338-32259388	HPAEpiC	pulmonary alveolar:	n/a
41	chr12:32259338-32259388	HRPEpiC	eye:	n/a
42	chr12:32259338-32259388	HEK293	kidney:	embryo
43	chr12:32259338-32259388	Hela-S3	cervix:	n/a
44	chr12:32259338-32259388	HNPCEpiC	eye:	n/a
45	chr12:32259338-32259388	SK-N-MC	brain:	n/a
46	chr12:32259338-32259388	GM19239	blood:	n/a
47	chr12:32259338-32259388	HIPEpiC	eye:	n/a
48	chr12:32259338-32259388	GM12891	blood:	n/a
49	chr12:32259338-32259388	NT2-D1	testis:	n/a
50	chr12:32259338-32259388	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:32259049..32259569-chr8:146052164..146052785,2	NB4	blood:
2	chr12:31880708..31883036-chr12:32258362..32261321,3	K562	blood:
3	chr12:32257278..32259683-chr12:32278967..32281640,2	MCF-7	breast:

Variant related genes	Relation type
BICD1	TF binding region
BICD1	CpG island
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1144717	0.88[ASN][1000 genomes]
rs1151017	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1260708	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1261166	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1618256	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1631036	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673857	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673858	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1684146	0.85[EUR][1000 genomes]
rs1684149	0.86[EUR][1000 genomes]
rs1716937	0.85[EUR][1000 genomes]
rs1716941	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1798260	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1798265	0.85[EUR][1000 genomes]
rs2630566	0.85[EUR][1000 genomes]
rs2668293	0.85[EUR][1000 genomes]
rs2683491	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr12:32258400-32261600	Active TSS	Brain Germinal Matrix	brain
2	chr12:32258600-32259400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:32258800-32259400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
4	chr12:32258800-32259400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:32258800-32259400	Enhancers	Stomach Mucosa	stomach
6	chr12:32258800-32259400	Flanking Active TSS	NH-A	brain
7	chr12:32258800-32259400	Flanking Active TSS	Osteobl	bone
8	chr12:32258800-32259600	Flanking Active TSS	Dnd41	blood
9	chr12:32258800-32260200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr12:32258800-32260600	Active TSS	Colon Smooth Muscle	Colon
11	chr12:32258800-32260800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr12:32258800-32260800	Active TSS	Fetal Kidney	kidney
13	chr12:32258800-32261400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:32258800-32262400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:32258800-32263000	Active TSS	Fetal Brain Female	brain
16	chr12:32259000-32259400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:32259000-32259400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:32259000-32259400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
19	chr12:32259000-32259400	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr12:32259000-32259400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr12:32259000-32259400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:32259000-32259400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr12:32259000-32259400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr12:32259000-32259400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:32259000-32259400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:32259000-32259400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr12:32259000-32259400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:32259000-32259400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr12:32259000-32259400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:32259000-32259400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:32259000-32259400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:32259000-32259400	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr12:32259000-32259400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr12:32259000-32259400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr12:32259000-32259400	Flanking Active TSS	Fetal Brain Male	brain
36	chr12:32259000-32259400	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr12:32259000-32259400	Flanking Active TSS	Fetal Stomach	stomach
38	chr12:32259000-32259400	Flanking Active TSS	Right Ventricle	heart
39	chr12:32259000-32259400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr12:32259000-32259400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr12:32259000-32259400	Flanking Active TSS	A549	lung
42	chr12:32259000-32259400	Flanking Bivalent TSS/Enh	HepG2	liver
43	chr12:32259000-32259400	Flanking Active TSS	HUVEC	blood vessel
44	chr12:32259000-32259400	Flanking Active TSS	K562	blood
45	chr12:32259000-32259400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr12:32259000-32259400	Flanking Active TSS	NHEK	skin
47	chr12:32259000-32259600	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr12:32259000-32259600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr12:32259000-32259600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr12:32259000-32259600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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