Variant report

Variant	rs536658730
Chromosome Location	chr22:30722994-30722995
allele	C/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	MAX	chr22:30722406-30723491	GM12878	blood:	n/a	chr22:30723081-30723091 chr22:30723006-30723015 chr22:30722935-30722944 chr22:30722931-30722941
2	POLR2A	chr22:30722573-30723389	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:30722690-30723043	HCT-116	colon:	n/a	n/a
4	JUND	chr22:30722742-30723296	K562	blood:	n/a	chr22:30722971-30722980 chr22:30723131-30723140
5	YY1	chr22:30722687-30723057	K562	blood:	n/a	chr22:30722972-30722981
6	POLR2A	chr22:30722231-30723422	GM18526	blood:	n/a	n/a
7	TBP	chr22:30722717-30723296	K562	blood:	n/a	n/a
8	ELF1	chr22:30722894-30723661	HCT-116	colon:	n/a	chr22:30723165-30723176
9	MAX	chr22:30722813-30723085	K562	blood:	n/a	chr22:30723006-30723015 chr22:30722935-30722944 chr22:30722931-30722941
10	ZEB1	chr22:30722577-30723560	HepG2	liver:	n/a	chr22:30723145-30723152 chr22:30723143-30723155
11	GABPA	chr22:30722849-30723600	MCF-7	breast:	n/a	chr22:30723083-30723092 chr22:30722932-30722941 chr22:30722972-30722981
12	POLR2A	chr22:30722234-30723525	GM12892	blood:	n/a	n/a
13	SIN3AK20	chr22:30722539-30722997	H1-hESC	embryonic stem cell:	n/a	n/a
14	SP4	chr22:30722747-30723311	H1-hESC	embryonic stem cell:	n/a	chr22:30722969-30722985 chr22:30722967-30722983 chr22:30723082-30723093 chr22:30723080-30723096 chr22:30723037-30723048 chr22:30723110-30723121 chr22:30722928-30722944 chr22:30723078-30723094
15	MAX	chr22:30722653-30723490	MCF-7	breast:	n/a	chr22:30723081-30723091 chr22:30723006-30723015 chr22:30722935-30722944 chr22:30722931-30722941
16	HA-E2F1	chr22:30722543-30723461	MCF-7	breast:	n/a	chr22:30722972-30722981 chr22:30723083-30723092 chr22:30723109-30723121
17	SIN3AK20	chr22:30722519-30723349	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr22:30722656-30723022	HCT-116	colon:	n/a	n/a
19	POLR2A	chr22:30722663-30723419	Hela-S3	cervix:	n/a	n/a
20	ELF1	chr22:30722734-30723521	GM12878	blood:	n/a	chr22:30723165-30723176
21	TAF1	chr22:30722597-30723431	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr22:30722543-30723113	ProgFib	skin:	n/a	n/a
23	ELF1	chr22:30721698-30723480	GM12878	blood:	n/a	chr22:30723165-30723176
24	TAF1	chr22:30722629-30723079	H1-neurons	neurons:	n/a	n/a
25	RFX5	chr22:30722830-30723352	GM12878	blood:	n/a	n/a
26	SIN3AK20	chr22:30722547-30723002	K562	blood:	n/a	n/a
27	POLR2A	chr22:30722405-30723382	K562	blood:	n/a	n/a
28	POLR2A	chr22:30722535-30723504	ECC-1	luminal epithelium:	n/a	n/a
29	PBX3	chr22:30722806-30723496	SK-N-SH	brain:	n/a	chr22:30723129-30723138
30	POLR2A	chr22:30721940-30723407	GM12878	blood:	n/a	n/a
31	PAX5	chr22:30722523-30723189	GM12892	blood:	n/a	n/a
32	MTA3	chr22:30722985-30723540	GM12878	blood:	n/a	n/a
33	POLR2A	chr22:30722693-30723399	K562	blood:	n/a	n/a
34	POLR2A	chr22:30722483-30722995	GM12878	blood:	n/a	n/a
35	POLR2A	chr22:30722467-30723049	PFSK-1	brain:	n/a	n/a
36	PBX3	chr22:30722922-30723330	A549	lung:	n/a	chr22:30723129-30723138
37	EGR1	chr22:30722696-30723361	MCF-7	breast:	n/a	chr22:30722971-30722981 chr22:30722934-30722943 chr22:30722933-30722946 chr22:30723078-30723091 chr22:30722933-30722946 chr22:30722934-30722944 chr22:30722928-30722950 chr22:30722934-30722945 chr22:30723083-30723093 chr22:30723078-30723091 chr22:30722933-30722946 chr22:30722931-30722941 chr22:30723078-30723091 chr22:30722972-30722982 chr22:30722934-30722944 chr22:30722933-30722946 chr22:30723077-30723092 chr22:30722932-30722946 chr22:30723112-30723122
38	POLR2A	chr22:30722625-30722997	GM12891	blood:	n/a	n/a
39	TCF12	chr22:30722880-30723487	ECC-1	luminal epithelium:	n/a	n/a
40	RCOR1	chr22:30722864-30723314	Hela-S3	cervix:	n/a	n/a
41	YY1	chr22:30722720-30723028	SK-N-SH_RA	brain:	n/a	chr22:30722972-30722981
42	NFYB	chr22:30722718-30723240	K562	blood:	n/a	chr22:30723127-30723140 chr22:30722947-30722962 chr22:30722947-30722962 chr22:30722949-30722964
43	POLR2A	chr22:30722244-30723493	GM19193	blood:	n/a	n/a
44	POLR2A	chr22:30722232-30723527	GM12878	blood:	n/a	n/a
45	MXI1	chr22:30722690-30723615	GM12878	blood:	n/a	n/a
46	POLR2A	chr22:30721888-30723536	K562	blood:	n/a	n/a
47	ELF1	chr22:30722935-30723474	MCF-7	breast:	n/a	chr22:30723165-30723176
48	POLR2A	chr22:30722578-30723000	GM12891	blood:	n/a	n/a
49	MXI1	chr22:30722823-30723308	Hela-S3	cervix:	n/a	n/a
50	YY1	chr22:30722565-30723280	GM12891	blood:	n/a	chr22:30722972-30722981 chr22:30723083-30723092 chr22:30723089-30723100 chr22:30723095-30723109 chr22:30723083-30723097

No.	Distal block	Cell Line	Cell type
1	chr22:30720936..30724991-chr22:30750350..30754449,10	MCF-7	breast:
2	chr22:30692849..30696422-chr22:30721996..30724187,4	MCF-7	breast:
3	chr22:30641352..30643505-chr22:30721621..30724253,3	MCF-7	breast:
4	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
5	chr22:30692473..30695111-chr22:30722676..30724964,2	K562	blood:
6	chr22:30710430..30716803-chr22:30717996..30724228,10	MCF-7	breast:
7	chr22:30719395..30724233-chr22:30750032..30754717,7	MCF-7	breast:
8	chr22:30721434..30723843-chr22:30737479..30740425,2	K562	blood:
9	chr22:30722829..30724775-chr22:30819297..30822266,2	MCF-7	breast:
10	chr22:30683831..30686273-chr22:30722432..30724567,2	K562	blood:
11	chr22:30722860..30724693-chr22:30742029..30744821,2	K562	blood:
12	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
13	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
14	chr22:30722006..30724246-chr22:30752442..30754508,2	K562	blood:
15	chr22:30701046..30703997-chr22:30721368..30724437,4	K562	blood:

Variant related genes	Relation type
TBC1D10A	TF binding region
ENSG00000187860	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000128342	Chromatin interaction
ENSG00000248751	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000268812	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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
4	nsv984527	chr22:30698358-30732712	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv3593	chr22:30705980-30751122	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
7	esv3325406	chr22:30721477-30724325	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
8	esv3388243	chr22:30721827-30724050	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30721000-30723200	Active TSS	Psoas Muscle	Psoas
2	chr22:30721000-30723400	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr22:30721000-30723600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr22:30721600-30723200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr22:30721600-30723200	Active TSS	HSMMtube	muscle
6	chr22:30721600-30723400	Active TSS	Aorta	Aorta
7	chr22:30721600-30723400	Active TSS	Esophagus	oesophagus
8	chr22:30721800-30723200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr22:30721800-30723200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr22:30721800-30723200	Active TSS	Brain Angular Gyrus	brain
11	chr22:30721800-30723400	Active TSS	Fetal Kidney	kidney
12	chr22:30721800-30723600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:30722000-30723000	Active TSS	Small Intestine	intestine
14	chr22:30722000-30723200	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr22:30722000-30723200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr22:30722000-30723200	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr22:30722000-30723200	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr22:30722000-30723200	Active TSS	Brain Anterior Caudate	brain
19	chr22:30722000-30723200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr22:30722000-30723200	Active TSS	Fetal Lung	lung
21	chr22:30722000-30723200	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr22:30722000-30723200	Active TSS	HSMM	muscle
23	chr22:30722000-30723200	Active TSS	NHDF-Ad	bronchial
24	chr22:30722000-30723200	Active TSS	NHEK	skin
25	chr22:30722000-30723200	Active TSS	NHLF	lung
26	chr22:30722000-30723400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:30722000-30723400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:30722000-30723400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:30722000-30723400	Active TSS	Gastric	stomach
30	chr22:30722000-30723400	Active TSS	Lung	lung
31	chr22:30722000-30723400	Active TSS	Ovary	ovary
32	chr22:30722000-30723400	Active TSS	Right Atrium	heart
33	chr22:30722000-30723400	Active TSS	Stomach Mucosa	stomach
34	chr22:30722000-30723600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr22:30722000-30723600	Active TSS	GM12878-XiMat	blood
36	chr22:30722200-30723000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:30722200-30723000	Active TSS	Spleen	Spleen
38	chr22:30722200-30723000	Active TSS	Dnd41	blood
39	chr22:30722200-30723200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr22:30722200-30723200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr22:30722200-30723200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:30722200-30723200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:30722200-30723200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:30722200-30723200	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr22:30722200-30723200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:30722200-30723200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr22:30722200-30723200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr22:30722200-30723200	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr22:30722200-30723200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr22:30722200-30723200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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