Variant report

Variant	rs2301586
Chromosome Location	chr22:29702910-29702911
allele	A/T
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	ELF1	chr22:29702497-29703476	K562	blood:	n/a	n/a
2	MAX	chr22:29702703-29703189	A549	lung:	n/a	chr22:29702885-29702895
3	POLR2A	chr22:29702824-29703296	HCT-116	colon:	n/a	n/a
4	GATA3	chr22:29701935-29703097	MCF-7	breast:	n/a	n/a
5	POLR2A	chr22:29702182-29703242	PFSK-1	brain:	n/a	n/a
6	E2F6	chr22:29702075-29702924	K562	blood:	n/a	chr22:29702318-29702325 chr22:29702316-29702327 chr22:29702318-29702325 chr22:29702318-29702325 chr22:29702885-29702894
7	MAX	chr22:29702127-29703191	SK-N-SH	brain:	n/a	chr22:29702885-29702895
8	POLR2A	chr22:29702050-29702931	PBDE	blood:	n/a	n/a
9	MAZ	chr22:29702058-29703657	Hela-S3	cervix:	n/a	chr22:29702885-29702895
10	TEAD4	chr22:29702701-29703310	ECC-1	luminal epithelium:	n/a	n/a
11	BCL3	chr22:29702547-29703058	A549	lung:	n/a	chr22:29702569-29702582 chr22:29702914-29702927
12	MAX	chr22:29701922-29703739	A549	lung:	n/a	chr22:29702885-29702895
13	EP300	chr22:29702124-29703272	K562	blood:	n/a	chr22:29702293-29702309 chr22:29702299-29702315 chr22:29702257-29702273 chr22:29702914-29702930 chr22:29702283-29702299
14	TCF12	chr22:29701819-29703578	ECC-1	luminal epithelium:	n/a	chr22:29702870-29702878 chr22:29702992-29703000 chr22:29702074-29702084
15	POLR2A	chr22:29702884-29703243	MCF10A-Er-Src	breast:	n/a	n/a
16	ETS1	chr22:29702881-29703132	K562	blood:	n/a	chr22:29702908-29702921
17	MAZ	chr22:29702080-29703349	K562	blood:	n/a	chr22:29702885-29702895
18	HEY1	chr22:29702900-29703144	K562	blood:	n/a	chr22:29703028-29703043
19	SIN3A	chr22:29702095-29703026	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr22:29702090-29703706	SK-N-MC	brain:	n/a	n/a
21	HCFC1	chr22:29701861-29703393	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr22:29701983-29703175	SK-N-SH	brain:	n/a	n/a
23	TEAD4	chr22:29702723-29703216	HepG2	liver:	n/a	n/a
24	MYBL2	chr22:29702902-29703194	HepG2	liver:	n/a	n/a
25	MAX	chr22:29702046-29703418	Hela-S3	cervix:	n/a	chr22:29702885-29702895
26	CTBP2	chr22:29702009-29703073	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPD	chr22:29702889-29703163	HepG2	liver:	n/a	n/a
28	POLR2A	chr22:29702838-29703208	U87	brain:	n/a	n/a
29	HNF4G	chr22:29702796-29703131	HepG2	liver:	n/a	n/a
30	MAX	chr22:29702811-29703049	HepG2	liver:	n/a	chr22:29702885-29702895
31	CTCF	chr22:29701947-29703979	SK-N-SH	brain:	n/a	chr22:29702302-29702315
32	POLR2A	chr22:29702853-29703204	HepG2	liver:	n/a	n/a
33	CTCF	chr22:29702900-29703194	K562	blood:	n/a	n/a
34	MAX	chr22:29702075-29703196	SK-N-SH	brain:	n/a	chr22:29702885-29702895
35	NR3C1	chr22:29702531-29703230	ECC-1	luminal epithelium:	n/a	chr22:29702664-29702680 chr22:29702661-29702682 chr22:29702664-29702680 chr22:29702665-29702679
36	HA-E2F1	chr22:29702076-29703218	Hela-S3	cervix:	n/a	chr22:29702318-29702325 chr22:29702256-29702267 chr22:29702999-29703008 chr22:29702318-29702325 chr22:29702318-29702325 chr22:29702885-29702894
37	HDAC2	chr22:29702735-29703721	MCF-7	breast:	n/a	n/a
38	POLR2A	chr22:29702521-29702945	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr22:29702869-29703264	MCF-7	breast:	n/a	n/a
40	EGR1	chr22:29702840-29703307	K562	blood:	n/a	chr22:29702999-29703009 chr22:29703027-29703037
41	MAX	chr22:29702063-29703162	MCF-7	breast:	n/a	chr22:29702885-29702895
42	HDAC2	chr22:29702810-29703145	HepG2	liver:	n/a	n/a
43	MAX	chr22:29701917-29703687	HepG2	liver:	n/a	chr22:29702885-29702895
44	CTCF	chr22:29702880-29703030	NHLF	lung:	n/a	n/a
45	MAX	chr22:29701829-29703686	ECC-1	luminal epithelium:	n/a	chr22:29702885-29702895
46	POLR2A	chr22:29702811-29703284	HCT-116	colon:	n/a	n/a
47	CTCF	chr22:29702900-29703050	NHDF-neo	bronchial:	n/a	n/a
48	CREB1	chr22:29702537-29703206	A549	lung:	n/a	n/a
49	TAF1	chr22:29702736-29703415	ECC-1	luminal epithelium:	n/a	n/a
50	CTCF	chr22:29702889-29703209	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29702866-29702916	GM12891	blood:	n/a
2	chr22:29702866-29702916	HAEpiC	amniotic membrane:	n/a
3	chr22:29702866-29702916	SKMC	muscle:	n/a
4	chr22:29702866-29702916	NHDF-neo	bronchial:	n/a
5	chr22:29702866-29702916	H1-hESC	embryonic stem cell:	embryo
6	chr22:29702866-29702916	GM06990	blood:	n/a
7	chr22:29702866-29702916	HRPEpiC	eye:	n/a
8	chr22:29702866-29702916	AG09319	gingival:	n/a
9	chr22:29702866-29702916	NT2-D1	testis:	n/a
10	chr22:29702866-29702916	HIPEpiC	eye:	n/a
11	chr22:29702866-29702916	PANC-1	pancreas:	n/a
12	chr22:29702866-29702916	SAEC	small airway:	n/a
13	chr22:29702866-29702916	NHBE	bronchial:	n/a
14	chr22:29702866-29702916	HCT-116	colon:	n/a
15	chr22:29702866-29702916	AG04450	lung:	fetal
16	chr22:29702866-29702916	SK-N-MC	brain:	n/a
17	chr22:29702866-29702916	ProgFib	skin:	n/a
18	chr22:29702866-29702916	AG09309	skin:	n/a
19	chr22:29702866-29702916	LNCaP	prostate:	n/a
20	chr22:29702866-29702916	T-47D	breast:	n/a
21	chr22:29702866-29702916	BE2_C	brain:	n/a
22	chr22:29702866-29702916	AoSMC	blood vessel:	n/a
23	chr22:29702866-29702916	ECC-1	luminal epithelium:	n/a
24	chr22:29702866-29702916	CMK	blood:	n/a
25	chr22:29702866-29702916	AG10803	skin:	n/a
26	chr22:29702866-29702916	GM12878	blood:	n/a
27	chr22:29702866-29702916	IMR90	lung:	fetal
28	chr22:29702866-29702916	GM19239	blood:	n/a
29	chr22:29702866-29702916	HepG2	liver:	n/a
30	chr22:29702866-29702916	HNPCEpiC	eye:	n/a
31	chr22:29702866-29702916	GM12892	blood:	n/a
32	chr22:29702866-29702916	MCF10A-Er-Src	breast:	n/a
33	chr22:29702866-29702916	SK-N-SH_RA	brain:	n/a
34	chr22:29702866-29702916	Hepatocyte	liver:	n/a
35	chr22:29702866-29702916	U87	brain:	n/a
36	chr22:29702866-29702916	SK-N-SH	brain:	n/a
37	chr22:29702866-29702916	HCM	heart:	n/a
38	chr22:29702866-29702916	AG04449	skin:	fetal
39	chr22:29702866-29702916	NH-A	brain:	n/a
40	chr22:29702866-29702916	PrEC	prostate:	n/a
41	chr22:29702866-29702916	Jurkat	blood:	n/a
42	chr22:29702866-29702916	NB4	blood:	n/a
43	chr22:29702866-29702916	HMEC	breast:	n/a
44	chr22:29702866-29702916	HPAEpiC	pulmonary alveolar:	n/a
45	chr22:29702866-29702916	HEEpiC	esophagus:	n/a
46	chr22:29702866-29702916	BJ	skin:	n/a
47	chr22:29702866-29702916	PFSK-1	brain:	n/a
48	chr22:29702866-29702916	HEK293	kidney:	embryo
49	chr22:29702866-29702916	MCF-7	breast:	n/a
50	chr22:29702866-29702916	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29702549..29705407-chr22:29734900..29738437,3	MCF-7	breast:
2	chr22:29661955..29666922-chr22:29700529..29704114,10	K562	blood:
3	chr22:29660929..29666447-chr22:29700529..29705135,9	K562	blood:
4	chr22:29700857..29704420-chr22:29708764..29712339,6	MCF-7	breast:
5	chr22:29685583..29688004-chr22:29700889..29703726,2	MCF-7	breast:
6	chr22:29670501..29673200-chr22:29700972..29703163,2	K562	blood:
7	chr22:29701804..29704290-chr22:29781998..29785634,5	MCF-7	breast:
8	chr22:29663358..29665751-chr22:29702504..29704805,4	MCF-7	breast:
9	chr10:88515922..88516847-chr22:29702728..29703265,2	HCT-116	colon:
10	chr22:29702481..29704174-chr22:29874105..29876353,2	K562	blood:

Variant related genes	Relation type
GAS2L1	TF binding region
GAS2L1	CpG island
ENSG00000225465	Chromatin interaction
ENSG00000100285	Chromatin interaction
ENSG00000100280	Chromatin interaction
ENSG00000182944	Chromatin interaction
ENSG00000107779	Chromatin interaction
ENSG00000100263	Chromatin interaction
ENSG00000272631	Chromatin interaction
ENSG00000100276	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2002566	0.81[ASN][1000 genomes]
rs2267135	0.84[ASN][1000 genomes]
rs2301291	0.84[AMR][1000 genomes]
rs2348468	0.81[ASN][1000 genomes]
rs2857466	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2881921	0.80[ASN][1000 genomes]
rs34234634	0.81[ASN][1000 genomes]
rs378720	0.81[ASN][1000 genomes]
rs3788412	0.84[ASN][1000 genomes]
rs4823032	0.87[ASN][1000 genomes]
rs5752906	0.82[ASN][1000 genomes]
rs5763144	0.91[ASN][1000 genomes]
rs5763171	0.81[ASN][1000 genomes]
rs5763172	0.84[ASN][1000 genomes]
rs5763173	0.81[ASN][1000 genomes]
rs5763179	0.81[ASN][1000 genomes]
rs5763182	0.81[ASN][1000 genomes]
rs5763184	0.81[ASN][1000 genomes]
rs5763189	0.80[ASN][1000 genomes]
rs5763190	0.80[ASN][1000 genomes]
rs5997467	0.81[ASN][1000 genomes]
rs6006103	0.83[ASN][1000 genomes]
rs6006108	0.80[ASN][1000 genomes]
rs6006109	0.80[ASN][1000 genomes]
rs6006112	0.81[ASN][1000 genomes]
rs6006113	0.81[ASN][1000 genomes]
rs6006115	0.84[ASN][1000 genomes]
rs737883	0.89[ASN][1000 genomes]
rs909798	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9613859	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription 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	21 gene(s)	inside rSNPs	diseases
5	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv914959	chr22:29696438-29712874	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv914960	chr22:29696438-29714069	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr22:29702000-29703000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
2	chr22:29702000-29703000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
3	chr22:29702000-29703200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
4	chr22:29702000-29703400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr22:29702000-29703600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr22:29702000-29703600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr22:29702000-29703600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:29702000-29703600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
9	chr22:29702000-29703800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr22:29702000-29704000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:29702000-29704000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:29702000-29704400	Flanking Active TSS	Colonic Mucosa	Colon
13	chr22:29702000-29705600	Active TSS	Fetal Brain Female	brain
14	chr22:29702000-29707800	Enhancers	Fetal Heart	heart
15	chr22:29702200-29703000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
16	chr22:29702200-29703000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr22:29702200-29703000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
18	chr22:29702200-29703200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr22:29702200-29703200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:29702200-29703200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
21	chr22:29702200-29703200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:29702200-29703400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr22:29702200-29703400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr22:29702200-29703400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:29702200-29703400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:29702200-29703400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:29702200-29703400	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr22:29702200-29703400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr22:29702200-29703400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:29702200-29703400	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr22:29702200-29703400	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr22:29702200-29703400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:29702200-29703400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr22:29702200-29703400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:29702200-29703400	Active TSS	Brain Cingulate Gyrus	brain
36	chr22:29702200-29703400	Active TSS	Fetal Intestine Large	intestine
37	chr22:29702200-29703400	Active TSS	Fetal Lung	lung
38	chr22:29702200-29703400	Active TSS	Ovary	ovary
39	chr22:29702200-29703400	Active TSS	HepG2	liver
40	chr22:29702200-29703400	Active TSS	K562	blood
41	chr22:29702200-29703400	Active TSS	Osteobl	bone
42	chr22:29702200-29703600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:29702200-29703600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr22:29702200-29703600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr22:29702200-29703600	Active TSS	Muscle Satellite Cultured Cells	--
46	chr22:29702200-29703600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:29702200-29703600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr22:29702200-29703600	Active TSS	Duodenum Mucosa	Duodenum
49	chr22:29702200-29703600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr22:29702200-29703600	Active TSS	Esophagus	oesophagus

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