Variant report

Variant	rs180948893
Chromosome Location	chr22:30723241-30723242
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	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	JUND	chr22:30722742-30723296	K562	blood:	n/a	chr22:30722971-30722980 chr22:30723131-30723140
4	POLR2A	chr22:30722231-30723422	GM18526	blood:	n/a	n/a
5	TBP	chr22:30722717-30723296	K562	blood:	n/a	n/a
6	ELF1	chr22:30722894-30723661	HCT-116	colon:	n/a	chr22:30723165-30723176
7	TCF12	chr22:30723029-30723261	GM12878	blood:	n/a	n/a
8	ZEB1	chr22:30722577-30723560	HepG2	liver:	n/a	chr22:30723145-30723152 chr22:30723143-30723155
9	GABPA	chr22:30722849-30723600	MCF-7	breast:	n/a	chr22:30723083-30723092 chr22:30722932-30722941 chr22:30722972-30722981
10	POLR2A	chr22:30722234-30723525	GM12892	blood:	n/a	n/a
11	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
12	MAX	chr22:30722653-30723490	MCF-7	breast:	n/a	chr22:30723081-30723091 chr22:30723006-30723015 chr22:30722935-30722944 chr22:30722931-30722941
13	HA-E2F1	chr22:30722543-30723461	MCF-7	breast:	n/a	chr22:30722972-30722981 chr22:30723083-30723092 chr22:30723109-30723121
14	SIN3AK20	chr22:30722519-30723349	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr22:30723067-30723371	GM12891	blood:	n/a	n/a
16	POLR2A	chr22:30722663-30723419	Hela-S3	cervix:	n/a	n/a
17	ELF1	chr22:30722734-30723521	GM12878	blood:	n/a	chr22:30723165-30723176
18	TAF1	chr22:30722597-30723431	ECC-1	luminal epithelium:	n/a	n/a
19	ELF1	chr22:30721698-30723480	GM12878	blood:	n/a	chr22:30723165-30723176
20	ELF1	chr22:30723015-30723472	K562	blood:	n/a	chr22:30723165-30723176
21	RFX5	chr22:30722830-30723352	GM12878	blood:	n/a	n/a
22	SIN3AK20	chr22:30723059-30723410	HepG2	liver:	n/a	n/a
23	POLR2A	chr22:30722405-30723382	K562	blood:	n/a	n/a
24	POLR2A	chr22:30722535-30723504	ECC-1	luminal epithelium:	n/a	n/a
25	PBX3	chr22:30722806-30723496	SK-N-SH	brain:	n/a	chr22:30723129-30723138
26	POLR2A	chr22:30721940-30723407	GM12878	blood:	n/a	n/a
27	POLR2A	chr22:30723105-30723264	A549	lung:	n/a	n/a
28	MTA3	chr22:30722985-30723540	GM12878	blood:	n/a	n/a
29	POLR2A	chr22:30722693-30723399	K562	blood:	n/a	n/a
30	POLR2A	chr22:30723093-30723310	HepG2	liver:	n/a	n/a
31	NFIC	chr22:30723021-30723522	GM12878	blood:	n/a	n/a
32	TAF1	chr22:30723122-30723305	GM12892	blood:	n/a	n/a
33	POLR2A	chr22:30723006-30723363	K562	blood:	n/a	n/a
34	POLR2A	chr22:30723099-30723344	HepG2	liver:	n/a	n/a
35	PBX3	chr22:30722922-30723330	A549	lung:	n/a	chr22:30723129-30723138
36	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
37	POLR2A	chr22:30723046-30723384	GM12891	blood:	n/a	n/a
38	BCL3	chr22:30723031-30723383	A549	lung:	n/a	n/a
39	TCF12	chr22:30722880-30723487	ECC-1	luminal epithelium:	n/a	n/a
40	MAX	chr22:30723105-30723388	HepG2	liver:	n/a	n/a
41	RCOR1	chr22:30722864-30723314	Hela-S3	cervix:	n/a	n/a
42	YY1	chr22:30723105-30723295	K562	blood:	n/a	n/a
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	CHD2	chr22:30723097-30723360	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr22:30721888-30723536	K562	blood:	n/a	n/a
48	ELF1	chr22:30723065-30723319	HepG2	liver:	n/a	chr22:30723165-30723176
49	ELF1	chr22:30722935-30723474	MCF-7	breast:	n/a	chr22:30723165-30723176
50	MXI1	chr22:30722823-30723308	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30723212-30723262	HMEC	breast:	n/a
2	chr22:30723217-30723267	HRPEpiC	eye:	n/a
3	chr22:30723217-30723267	HPAEpiC	pulmonary alveolar:	n/a
4	chr22:30723217-30723267	ECC-1	luminal epithelium:	n/a
5	chr22:30723217-30723267	HMEC	breast:	n/a
6	chr22:30723212-30723262	GM12878	blood:	n/a
7	chr22:30723217-30723267	MCF-7	breast:	n/a
8	chr22:30723212-30723262	AG09309	skin:	n/a
9	chr22:30723212-30723262	A549	lung:	n/a
10	chr22:30723212-30723262	PANC-1	pancreas:	n/a
11	chr22:30723217-30723267	NH-A	brain:	n/a
12	chr22:30723217-30723267	AG04450	lung:	fetal
13	chr22:30723212-30723262	NH-A	brain:	n/a
14	chr22:30723217-30723267	BE2_C	brain:	n/a
15	chr22:30723217-30723267	GM12891	blood:	n/a
16	chr22:30723217-30723267	AG10803	skin:	n/a
17	chr22:30723217-30723267	GM19239	blood:	n/a
18	chr22:30723212-30723262	MCF10A-Er-Src	breast:	n/a
19	chr22:30723212-30723262	NHBE	bronchial:	n/a
20	chr22:30723217-30723267	ovcar-3	ovarian:	n/a
21	chr22:30723217-30723267	CMK	blood:	n/a
22	chr22:30723217-30723267	GM12878	blood:	n/a
23	chr22:30723217-30723267	AG09319	gingival:	n/a
24	chr22:30723217-30723267	AG04449	skin:	fetal
25	chr22:30723217-30723267	SK-N-SH	brain:	n/a
26	chr22:30723217-30723267	GM06990	blood:	n/a
27	chr22:30723217-30723267	Caco-2	colon:	n/a
28	chr22:30723212-30723262	HRCEpiC	kidney:	n/a
29	chr22:30723212-30723262	K562	blood:	n/a
30	chr22:30723217-30723267	RPTEC	kidney:	n/a
31	chr22:30723212-30723262	GM12891	blood:	n/a
32	chr22:30723217-30723267	AG09309	skin:	n/a
33	chr22:30723212-30723262	SK-N-SH	brain:	n/a
34	chr22:30723217-30723267	SKMC	muscle:	n/a
35	chr22:30723212-30723262	RPTEC	kidney:	n/a
36	chr22:30723212-30723262	HRE	kidney:	n/a
37	chr22:30723217-30723267	ProgFib	skin:	n/a
38	chr22:30723217-30723267	NT2-D1	testis:	n/a
39	chr22:30723217-30723267	HNPCEpiC	eye:	n/a
40	chr22:30723212-30723262	PFSK-1	brain:	n/a
41	chr22:30723217-30723267	Hela-S3	cervix:	n/a
42	chr22:30723212-30723262	SK-N-SH_RA	brain:	n/a
43	chr22:30723212-30723262	ECC-1	luminal epithelium:	n/a
44	chr22:30723212-30723262	ovcar-3	ovarian:	n/a
45	chr22:30723212-30723262	HepG2	liver:	n/a
46	chr22:30723217-30723267	H1-hESC	embryonic stem cell:	embryo
47	chr22:30723212-30723262	HRPEpiC	eye:	n/a
48	chr22:30723212-30723262	AG04450	lung:	fetal
49	chr22:30723212-30723262	CMK	blood:	n/a
50	chr22:30723217-30723267	Hepatocyte	liver:	n/a

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	chr22:30723090..30724854-chr22:30725952..30728416,2	K562	blood:
13	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
14	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
15	chr22:30722006..30724246-chr22:30752442..30754508,2	K562	blood:
16	chr22:30656777..30659153-chr22:30723216..30725905,2	MCF-7	breast:
17	chr22:30701046..30703997-chr22:30721368..30724437,4	K562	blood:

Variant related genes	Relation type
TBC1D10A	TF binding region
TBC1D10A	CpG island
ENSG00000099992	Chromatin interaction
ENSG00000248751	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000128342	Chromatin interaction
ENSG00000268812	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000242114	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	chr22:30721000-30723400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr22:30721000-30723600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr22:30721600-30723400	Active TSS	Aorta	Aorta
4	chr22:30721600-30723400	Active TSS	Esophagus	oesophagus
5	chr22:30721800-30723400	Active TSS	Fetal Kidney	kidney
6	chr22:30721800-30723600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:30722000-30723400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:30722000-30723400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:30722000-30723400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:30722000-30723400	Active TSS	Gastric	stomach
11	chr22:30722000-30723400	Active TSS	Lung	lung
12	chr22:30722000-30723400	Active TSS	Ovary	ovary
13	chr22:30722000-30723400	Active TSS	Right Atrium	heart
14	chr22:30722000-30723400	Active TSS	Stomach Mucosa	stomach
15	chr22:30722000-30723600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr22:30722000-30723600	Active TSS	GM12878-XiMat	blood
17	chr22:30722200-30723400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr22:30722200-30723400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr22:30722200-30723400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:30722200-30723400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr22:30722200-30723400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr22:30722200-30723400	Active TSS	HepG2	liver
23	chr22:30722200-30724400	Active TSS	Rectal Smooth Muscle	rectum
24	chr22:30722400-30723400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:30722400-30723400	Active TSS	Brain Germinal Matrix	brain
26	chr22:30722400-30723600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:30722400-30723600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:30722400-30723600	Active TSS	Brain Cingulate Gyrus	brain
29	chr22:30722400-30723600	Active TSS	Fetal Brain Male	brain
30	chr22:30722600-30723800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr22:30723000-30723400	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr22:30723000-30723600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:30723000-30723600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr22:30723000-30723600	Enhancers	Spleen	Spleen
35	chr22:30723000-30723800	Flanking Active TSS	Dnd41	blood
36	chr22:30723000-30728400	Weak transcription	Small Intestine	intestine
37	chr22:30723200-30723400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:30723200-30723400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr22:30723200-30723400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:30723200-30723400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr22:30723200-30723400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr22:30723200-30723400	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr22:30723200-30723400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr22:30723200-30723400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr22:30723200-30723400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr22:30723200-30723400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr22:30723200-30723400	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr22:30723200-30723400	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr22:30723200-30723400	Active TSS	Fetal Heart	heart
50	chr22:30723200-30723400	Flanking Active TSS	Fetal Lung	lung

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