Variant report

Variant	rs12157614
Chromosome Location	chr22:33345801-33345802
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	EP300	chr22:33345798-33346047	SK-N-SH_RA	brain:	n/a	n/a
2	FOXA1	chr22:33345619-33345958	HepG2	liver:	n/a	n/a
3	GATA2	chr22:33345790-33346788	SH-SY5Y	brain:	n/a	chr22:33346670-33346678
4	TEAD4	chr22:33345630-33346110	HepG2	liver:	n/a	n/a
5	FOXA2	chr22:33345692-33346011	HepG2	liver:	n/a	n/a
6	FOXA1	chr22:33345668-33346013	HepG2	liver:	n/a	n/a
7	MAFK	chr22:33345801-33345856	HepG2	liver:	n/a	n/a
8	HDAC2	chr22:33345749-33346024	HepG2	liver:	n/a	n/a
9	GATA3	chr22:33345706-33346201	SK-N-SH	brain:	n/a	n/a
10	FOXA1	chr22:33345674-33346004	HepG2	liver:	n/a	n/a
11	CEBPB	chr22:33345763-33346057	HepG2	liver:	n/a	n/a
12	FOXA1	chr22:33345667-33346054	HepG2	liver:	n/a	n/a
13	ARID3A	chr22:33345728-33345803	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32846948-32860159..22:33339333-33353583	K562	blood:

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000184459	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11089599	1.00[YRI][hapmap]
rs11703670	1.00[YRI][hapmap]
rs11703699	1.00[YRI][hapmap]
rs12157570	1.00[AFR][1000 genomes]
rs12157696	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12158682	0.84[AFR][1000 genomes]
rs12158771	1.00[AFR][1000 genomes]
rs12160149	0.82[AFR][1000 genomes]
rs12160160	1.00[YRI][hapmap]
rs12160467	0.92[AFR][1000 genomes]
rs2042793	1.00[YRI][hapmap]
rs5998660	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs5998671	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs5998677	1.00[YRI][hapmap]
rs5998679	1.00[YRI][hapmap]
rs5998685	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33314000-33380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33340200-33346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr22:33341600-33349600	Weak transcription	Fetal Brain Male	brain
4	chr22:33343000-33347000	Enhancers	Fetal Intestine Small	intestine
5	chr22:33343200-33347400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:33343200-33372600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:33343600-33346800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:33343600-33353000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:33344200-33346400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr22:33344200-33360400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr22:33344800-33346600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:33345000-33349200	Enhancers	Fetal Heart	heart
13	chr22:33345000-33350800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr22:33345200-33348200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:33345200-33348400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:33345400-33346000	Enhancers	HMEC	breast
17	chr22:33345400-33346200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr22:33345400-33346200	Enhancers	Lung	lung
19	chr22:33345400-33346200	Enhancers	Ovary	ovary
20	chr22:33345400-33346600	Enhancers	Pancreas	Pancrea
21	chr22:33345400-33347400	Enhancers	Fetal Intestine Large	intestine
22	chr22:33345400-33348400	Enhancers	Fetal Muscle Leg	muscle
23	chr22:33345400-33348600	Enhancers	Placenta	Placenta
24	chr22:33345400-33348600	Enhancers	Left Ventricle	heart
25	chr22:33345600-33346000	Enhancers	Stomach Smooth Muscle	stomach
26	chr22:33345600-33346600	Enhancers	Fetal Kidney	kidney
27	chr22:33345600-33346800	Enhancers	HepG2	liver
28	chr22:33345600-33346800	Enhancers	K562	blood
29	chr22:33345600-33348400	Enhancers	Fetal Lung	lung
30	chr22:33345600-33348600	Enhancers	Right Atrium	heart
31	chr22:33345800-33346000	Enhancers	Duodenum Mucosa	Duodenum
32	chr22:33345800-33346600	Enhancers	Spleen	Spleen
33	chr22:33345800-33347600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr22:33345800-33347800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:33345800-33348200	Enhancers	Right Ventricle	heart
36	chr22:33345800-33348200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr22:33345800-33349000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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