Variant report

Variant	rs12106594
Chromosome Location	chr22:31885316-31885317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr22:31885226-31886056	HepG2	liver:	n/a	n/a
2	PAX5	chr22:31885031-31885564	GM12892	blood:	n/a	n/a
3	GATA3	chr22:31884942-31885447	MCF-7	breast:	n/a	n/a
4	POLR2A	chr22:31885069-31886889	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr22:31885039-31886957	GM12878	blood:	n/a	n/a
6	MAX	chr22:31885027-31886858	K562	blood:	n/a	n/a
7	POLR2A	chr22:31884880-31888183	GM12892	blood:	n/a	n/a
8	POLR2A	chr22:31885101-31885472	A549	lung:	n/a	n/a
9	HMGN3	chr22:31885118-31886322	K562	blood:	n/a	n/a
10	POLR2A	chr22:31885058-31886831	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr22:31884955-31887595	K562	blood:	n/a	n/a
12	GATA3	chr22:31884857-31885317	SH-SY5Y	brain:	n/a	n/a
13	GATA1	chr22:31884666-31885594	PBDE	blood:	n/a	n/a
14	POLR2A	chr22:31885114-31885397	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr22:31885149-31886883	NB4	blood:	n/a	n/a
16	GATA3	chr22:31884934-31885342	T-47D	breast:	n/a	n/a
17	SIN3AK20	chr22:31884975-31885397	SK-N-SH	brain:	n/a	n/a
18	CCNT2	chr22:31885158-31886804	K562	blood:	n/a	chr22:31885860-31885869 chr22:31886296-31886316
19	POLR2A	chr22:31884984-31887127	GM19193	blood:	n/a	n/a
20	POLR2A	chr22:31885106-31887465	GM12878	blood:	n/a	n/a
21	UBTF	chr22:31884972-31887054	K562	blood:	n/a	n/a
22	HCFC1	chr22:31884847-31886545	Hela-S3	cervix:	n/a	n/a
23	ZNF143	chr22:31885030-31885419	GM12878	blood:	n/a	n/a
24	MXI1	chr22:31885031-31886857	HepG2	liver:	n/a	n/a
25	RUNX3	chr22:31884839-31885401	GM12878	blood:	n/a	chr22:31885300-31885315
26	POLR2A	chr22:31885040-31886981	GM18526	blood:	n/a	n/a
27	MAX	chr22:31885127-31887022	HepG2	liver:	n/a	n/a
28	CTCF	chr22:31885280-31885430	AG04449	skin:	n/a	chr22:31885391-31885404
29	YY1	chr22:31884959-31886881	GM12892	blood:	n/a	chr22:31886208-31886222 chr22:31885899-31885908 chr22:31886110-31886119 chr22:31886068-31886082 chr22:31886206-31886217 chr22:31885656-31885670 chr22:31886107-31886118 chr22:31885711-31885722 chr22:31885894-31885908
30	MXI1	chr22:31885255-31885434	Hela-S3	cervix:	n/a	n/a
31	SIN3AK20	chr22:31884968-31885448	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZNF263	chr22:31885113-31885800	K562	blood:	n/a	chr22:31885395-31885404
33	POLR2A	chr22:31885019-31887059	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr22:31885101-31887135	GM15510	blood:	n/a	n/a
35	MAX	chr22:31884960-31886998	HepG2	liver:	n/a	n/a
36	POLR2A	chr22:31885268-31886800	HepG2	liver:	n/a	n/a
37	UBTF	chr22:31885033-31886858	K562	blood:	n/a	n/a
38	ZNF263	chr22:31884982-31887569	HEK293-T-REx	kidney:	n/a	chr22:31886714-31886723 chr22:31885395-31885404 chr22:31886031-31886040
39	MAZ	chr22:31885020-31886260	Hela-S3	cervix:	n/a	n/a
40	ZBTB7A	chr22:31884900-31886515	ECC-1	luminal epithelium:	n/a	chr22:31885608-31885615 chr22:31885778-31885787
41	POLR2A	chr22:31884470-31886978	GM19099	blood:	n/a	n/a
42	POLR2A	chr22:31884943-31887276	HepG2	liver:	n/a	n/a
43	YY1	chr22:31884884-31886399	HepG2	liver:	n/a	chr22:31886208-31886222 chr22:31885899-31885908 chr22:31886110-31886119 chr22:31886068-31886082 chr22:31886206-31886217 chr22:31885656-31885670 chr22:31886107-31886118 chr22:31885711-31885722 chr22:31885894-31885908
44	ZBTB7A	chr22:31884990-31885470	K562	blood:	n/a	n/a
45	BCLAF1	chr22:31884849-31885471	GM12878	blood:	n/a	chr22:31885304-31885317 chr22:31885452-31885465
46	POLR2A	chr22:31884992-31887317	GM12892	blood:	n/a	n/a
47	POLR2A	chr22:31884942-31886911	K562	blood:	n/a	n/a
48	RUNX3	chr22:31884884-31885416	GM12878	blood:	n/a	chr22:31885300-31885315
49	POLR2A	chr22:31884609-31887214	GM18505	blood:	n/a	n/a
50	POLR2A	chr22:31884985-31886897	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31885298-31885348	PFSK-1	brain:	n/a
2	chr22:31885298-31885348	MCF10A-Er-Src	breast:	n/a
3	chr22:31885298-31885348	AG10803	skin:	n/a
4	chr22:31885298-31885348	GM19239	blood:	n/a
5	chr22:31885298-31885348	LNCaP	prostate:	n/a
6	chr22:31885298-31885348	AG04449	skin:	fetal
7	chr22:31885298-31885348	AG04450	lung:	fetal
8	chr22:31885298-31885348	Jurkat	blood:	n/a
9	chr22:31885298-31885348	PANC-1	pancreas:	n/a
10	chr22:31885298-31885348	HIPEpiC	eye:	n/a
11	chr22:31885298-31885348	ProgFib	skin:	n/a
12	chr22:31885298-31885348	SAEC	small airway:	n/a
13	chr22:31885298-31885348	HNPCEpiC	eye:	n/a
14	chr22:31885298-31885348	AoSMC	blood vessel:	n/a
15	chr22:31885298-31885348	AG09309	skin:	n/a
16	chr22:31885298-31885348	HAEpiC	amniotic membrane:	n/a
17	chr22:31885298-31885348	MCF-7	breast:	n/a
18	chr22:31885298-31885348	ECC-1	luminal epithelium:	n/a
19	chr22:31885298-31885348	BJ	skin:	n/a
20	chr22:31885298-31885348	HRPEpiC	eye:	n/a
21	chr22:31885298-31885348	HEEpiC	esophagus:	n/a
22	chr22:31885298-31885348	Caco-2	colon:	n/a
23	chr22:31885298-31885348	U87	brain:	n/a
24	chr22:31885298-31885348	SK-N-MC	brain:	n/a
25	chr22:31885298-31885348	IMR90	lung:	fetal
26	chr22:31885298-31885348	HCT-116	colon:	n/a
27	chr22:31885298-31885348	SKMC	muscle:	n/a
28	chr22:31885298-31885348	HL-60	blood:	n/a
29	chr22:31885298-31885348	SK-N-SH	brain:	n/a
30	chr22:31885298-31885348	HRE	kidney:	n/a
31	chr22:31885298-31885348	HUVEC	blood vessel:	n/a
32	chr22:31885298-31885348	T-47D	breast:	n/a
33	chr22:31885298-31885348	HPAEpiC	pulmonary alveolar:	n/a
34	chr22:31885298-31885348	K562	blood:	n/a
35	chr22:31885298-31885348	NHDF-neo	bronchial:	n/a
36	chr22:31885298-31885348	HEK293	kidney:	embryo
37	chr22:31885298-31885348	AG09319	gingival:	n/a
38	chr22:31885298-31885348	SK-N-SH_RA	brain:	n/a
39	chr22:31885298-31885348	Hela-S3	cervix:	n/a
40	chr22:31885298-31885348	NB4	blood:	n/a
41	chr22:31885298-31885348	GM12878	blood:	n/a
42	chr22:31885298-31885348	HepG2	liver:	n/a
43	chr22:31885298-31885348	BE2_C	brain:	n/a
44	chr22:31885298-31885348	NH-A	brain:	n/a
45	chr22:31885298-31885348	A549	lung:	n/a
46	chr22:31885298-31885348	RPTEC	kidney:	n/a
47	chr22:31885298-31885348	PrEC	prostate:	n/a
48	chr22:31885298-31885348	NHBE	bronchial:	n/a
49	chr22:31885298-31885348	H1-hESC	embryonic stem cell:	embryo
50	chr22:31885298-31885348	HCF	heart:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31362414..31364814-chr22:31884704..31886596,2	K562	blood:
2	chr22:31884354..31887535-chr22:32340375..32343416,3	MCF-7	breast:
3	chr14:60714772..60717731-chr22:31883101..31885338,2	MCF-7	breast:
4	chr18:12990875..12991863-chr22:31884946..31885786,2	Hela-S3	cervix:
5	22:31864703-31891033..22:31936958-31958600	GM12878	blood:
6	chr22:31739363..31741917-chr22:31884740..31886779,4	MCF-7	breast:
7	chr22:31883675..31887496-chr22:32025240..32029301,5	K562	blood:
8	22:31864703-31891033..22:31930706-31935473	GM12878	blood:
9	22:31864703-31891033..22:32347255-32351014	K562	blood:
10	chr22:31884997..31887735-chr22:32023066..32028730,7	MCF-7	breast:
11	chr22:31884998..31887254-chr22:32026687..32028800,2	K562	blood:
12	chr22:31793990..31796986-chr22:31884678..31887767,3	K562	blood:
13	chr22:31850201..31852811-chr22:31884349..31886700,2	MCF-7	breast:
14	chr22:31884599..31887538-chr22:32147471..32150641,3	K562	blood:
15	chr22:31884421..31887375-chr22:32024434..32026202,2	MCF-7	breast:
16	chr22:31741801..31743589-chr22:31885070..31888024,2	K562	blood:
17	chr22:31885118..31887084-chr22:32148124..32150324,2	MCF-7	breast:
18	chr22:31742290..31744009-chr22:31883766..31886602,4	MCF-7	breast:

No data

Variant related genes	Relation type
EIF4ENIF1	TF binding region
EIF4ENIF1	CpG island
ENSG00000214093	Chromatin interaction
ENSG00000240591	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000266969	Chromatin interaction
ENSG00000254718	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000100614	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10427704	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11913573	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11913621	1.00[ASN][1000 genomes]
rs35351984	1.00[ASN][1000 genomes]
rs35923988	1.00[ASN][1000 genomes]
rs5997930	1.00[ASN][1000 genomes]
rs5998031	1.00[ASN][1000 genomes]
rs7286320	1.00[ASN][1000 genomes]
rs7287648	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7291131	1.00[ASN][1000 genomes]
rs7292627	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1060776	chr22:31869892-31900359	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3324564	chr22:31884577-31887325	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv3348685	chr22:31884652-31887150	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr22:31884200-31885400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr22:31884200-31886800	Active TSS	GM12878-XiMat	blood
3	chr22:31884400-31885400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr22:31884400-31885600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr22:31884400-31886800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr22:31884600-31886800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:31884600-31886800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:31884600-31886800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:31884600-31887000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr22:31884600-31887000	Active TSS	Psoas Muscle	Psoas
11	chr22:31884600-31887000	Active TSS	Right Atrium	heart
12	chr22:31884600-31887200	Active TSS	Colonic Mucosa	Colon
13	chr22:31884600-31887200	Active TSS	Fetal Muscle Trunk	muscle
14	chr22:31884600-31887400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:31884800-31885400	Active TSS	Stomach Mucosa	stomach
16	chr22:31884800-31886200	Active TSS	Fetal Muscle Leg	muscle
17	chr22:31884800-31886200	Active TSS	Placenta	Placenta
18	chr22:31884800-31886200	Active TSS	HepG2	liver
19	chr22:31884800-31886400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr22:31884800-31886400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr22:31884800-31886400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:31884800-31886400	Active TSS	Fetal Thymus	thymus
23	chr22:31884800-31886400	Active TSS	HMEC	breast
24	chr22:31884800-31886600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr22:31884800-31886600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:31884800-31886600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr22:31884800-31886600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:31884800-31886600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr22:31884800-31886600	Active TSS	Fetal Stomach	stomach
30	chr22:31884800-31886600	Active TSS	HSMMtube	muscle
31	chr22:31884800-31886600	Active TSS	NHDF-Ad	bronchial
32	chr22:31884800-31886600	Active TSS	NHLF	lung
33	chr22:31884800-31886800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr22:31884800-31886800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr22:31884800-31886800	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr22:31884800-31886800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:31884800-31886800	Active TSS	Muscle Satellite Cultured Cells	--
38	chr22:31884800-31886800	Active TSS	Fetal Intestine Large	intestine
39	chr22:31884800-31886800	Active TSS	Fetal Intestine Small	intestine
40	chr22:31884800-31886800	Active TSS	Ovary	ovary
41	chr22:31884800-31886800	Active TSS	HSMM	muscle
42	chr22:31884800-31887000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:31884800-31887000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:31884800-31887000	Active TSS	Right Ventricle	heart
45	chr22:31884800-31887200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:31884800-31887200	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr22:31884800-31887200	Active TSS	A549	lung
48	chr22:31884800-31887200	Active TSS	K562	blood
49	chr22:31885000-31885400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr22:31885000-31885400	Flanking Active TSS	Thymus	Thymus

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