Variant report

Variant	rs201014305
Chromosome Location	chr22:29468550-29468551
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	NR2F2	chr22:29468388-29468913	MCF-7	breast:	n/a	n/a
2	CREB1	chr22:29468433-29469126	HepG2	liver:	n/a	n/a
3	MAZ	chr22:29468509-29469091	K562	blood:	n/a	n/a
4	HDAC2	chr22:29468510-29468933	HepG2	liver:	n/a	n/a
5	BACH1	chr22:29468477-29468734	H1-hESC	embryonic stem cell:	n/a	n/a
6	KAP1	chr22:29468384-29468780	HEK293	kidney:	n/a	n/a
7	RCOR1	chr22:29468270-29468577	HepG2	liver:	n/a	n/a
8	ZEB1	chr22:29468264-29469115	HepG2	liver:	n/a	chr22:29468767-29468774 chr22:29468824-29468831 chr22:29468765-29468774
9	POLR2A	chr22:29467188-29468888	PBDE	blood:	n/a	n/a
10	NRF1	chr22:29468267-29469153	SK-N-SH	brain:	n/a	n/a
11	JUN	chr22:29468457-29468913	K562	blood:	n/a	n/a
12	MAZ	chr22:29468246-29469517	IMR90	lung:	n/a	chr22:29469230-29469240 chr22:29469294-29469304
13	MAX	chr22:29468473-29469032	K562	blood:	n/a	n/a
14	IRF1	chr22:29468496-29469014	K562	blood:	n/a	chr22:29468838-29468852 chr22:29468755-29468769 chr22:29468905-29468919
15	CBX3	chr22:29468342-29468790	K562	blood:	n/a	n/a
16	NR2F2	chr22:29468413-29469054	MCF-7	breast:	n/a	n/a
17	MAX	chr22:29468402-29468710	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZEB1	chr22:29468534-29468938	GM12878	blood:	n/a	chr22:29468767-29468774 chr22:29468824-29468831 chr22:29468765-29468774
19	BHLHE40	chr22:29468536-29468887	K562	blood:	n/a	n/a
20	SP4	chr22:29468528-29469063	H1-hESC	embryonic stem cell:	n/a	chr22:29468755-29468771 chr22:29468836-29468852 chr22:29468907-29468923
21	NR2F2	chr22:29468505-29468945	K562	blood:	n/a	n/a
22	POLR2A	chr22:29468441-29469010	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29279568..29281765-chr22:29467462..29470387,2	K562	blood:

Variant related genes	Relation type
KREMEN1	TF binding region
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv524259	chr22:29467221-29482221	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3350194	chr22:29468252-29470350	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29466800-29468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:29467000-29468800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr22:29467000-29470400	Enhancers	Fetal Heart	heart
4	chr22:29467200-29468600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr22:29467200-29468600	Weak transcription	Gastric	stomach
6	chr22:29467200-29468600	Enhancers	Left Ventricle	heart
7	chr22:29467200-29468800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:29467200-29468800	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr22:29467200-29469000	Bivalent Enhancer	Fetal Brain Male	brain
10	chr22:29467200-29470200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr22:29467200-29470400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr22:29467200-29470400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr22:29467200-29470600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr22:29467200-29471200	Active TSS	Ovary	ovary
15	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
16	chr22:29467400-29468800	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
18	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
19	chr22:29467400-29469600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:29467400-29469600	Active TSS	Right Ventricle	heart
21	chr22:29467400-29470000	Active TSS	Aorta	Aorta
22	chr22:29467400-29470200	Active TSS	Psoas Muscle	Psoas
23	chr22:29467400-29470200	Active TSS	Right Atrium	heart
24	chr22:29467600-29468800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr22:29467600-29468800	Flanking Active TSS	Liver	Liver
26	chr22:29467600-29468800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr22:29467600-29468800	Flanking Bivalent TSS/Enh	Thymus	Thymus
28	chr22:29467600-29470400	Active TSS	HSMM	muscle
29	chr22:29467800-29468600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:29467800-29468600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr22:29467800-29468600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:29467800-29468600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
33	chr22:29467800-29468600	Enhancers	Pancreas	Pancrea
34	chr22:29467800-29468600	Flanking Active TSS	Stomach Mucosa	stomach
35	chr22:29467800-29468600	Enhancers	Spleen	Spleen
36	chr22:29467800-29468600	Active TSS	GM12878-XiMat	blood
37	chr22:29467800-29468800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr22:29467800-29468800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr22:29467800-29468800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
40	chr22:29467800-29468800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
41	chr22:29467800-29468800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
42	chr22:29467800-29468800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr22:29467800-29468800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr22:29467800-29468800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr22:29467800-29468800	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr22:29467800-29468800	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr22:29467800-29468800	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr22:29467800-29468800	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr22:29467800-29468800	Flanking Active TSS	Fetal Lung	lung
50	chr22:29467800-29468800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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