Variant report

Variant	rs536844142
Chromosome Location	chr22:30971086-30971087
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	POLR2A	chr22:30970774-30973067	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:30970970-30972658	K562	blood:	n/a	n/a
3	POLR2A	chr22:30971011-30971148	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr22:30971080-30971230	HCFaa	heart:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
5	POLR2A	chr22:30970918-30971197	GM12878	blood:	n/a	n/a
6	CTCF	chr22:30971040-30971190	RPTEC	kidney:	n/a	n/a
7	POLR2A	chr22:30970702-30971836	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr22:30970965-30972203	GM12878	blood:	n/a	n/a
9	POLR2A	chr22:30970772-30972180	GM12891	blood:	n/a	n/a
10	CTCF	chr22:30971040-30971190	AG04450	lung:	n/a	n/a
11	CTCF	chr22:30971080-30971230	HPF	lung:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
12	GATA3	chr22:30971028-30971803	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr22:30971000-30971150	HCM	heart:	n/a	n/a
14	FOSL2	chr22:30971075-30971706	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr22:30970983-30971921	SK-N-SH	brain:	n/a	chr22:30971300-30971308 chr22:30971316-30971323 chr22:30971528-30971538 chr22:30971338-30971348 chr22:30971439-30971447 chr22:30971339-30971346
16	SIN3AK20	chr22:30970971-30971290	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr22:30971020-30971170	HFF-Myc	foreskin:	n/a	n/a
18	POLR2A	chr22:30970841-30971980	GM12892	blood:	n/a	n/a
19	SMC3	chr22:30971035-30971298	HepG2	liver:	n/a	chr22:30971191-30971199 chr22:30971188-30971195 chr22:30971188-30971202 chr22:30971192-30971202 chr22:30971131-30971145
20	TEAD4	chr22:30971076-30971689	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr22:30969819-30972027	HepG2	liver:	n/a	n/a
22	CTCF	chr22:30971080-30971230	GM12865	blood:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
23	PBX3	chr22:30971080-30971726	SK-N-SH	brain:	n/a	chr22:30971151-30971160 chr22:30971138-30971158
24	POLR2A	chr22:30970979-30971507	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr22:30970672-30972299	GM12892	blood:	n/a	n/a
26	POLR2A	chr22:30971011-30971754	A549	lung:	n/a	n/a
27	CTCF	chr22:30971000-30971150	HPF	lung:	n/a	n/a
28	CTCF	chr22:30971040-30971190	HUVEC	blood vessel:	n/a	n/a
29	ATF2	chr22:30970966-30971298	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTBP2	chr22:30970768-30971525	H1-hESC	embryonic stem cell:	n/a	n/a
31	GATA3	chr22:30971012-30971913	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr22:30970940-30971090	A549	lung:	n/a	n/a
33	EP300	chr22:30971015-30971788	SK-N-SH	brain:	n/a	chr22:30971314-30971330
34	POLR2A	chr22:30970792-30971352	HepG2	liver:	n/a	n/a
35	CTCF	chr22:30971040-30971190	GM12868	blood:	n/a	n/a
36	POLR2A	chr22:30970851-30972204	GM12892	blood:	n/a	n/a
37	POLR2A	chr22:30971069-30971945	K562	blood:	n/a	n/a
38	POLR2A	chr22:30970745-30971392	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr22:30971015-30971353	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr22:30970912-30972354	HL-60	blood:	n/a	n/a
41	CTCF	chr22:30971020-30971290	NHLF	lung:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
42	POLR2A	chr22:30971059-30971561	SK-N-SH	brain:	n/a	n/a
43	CTCF	chr22:30971080-30971230	AG04449	skin:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
44	POLR2A	chr22:30970729-30972168	GM12878	blood:	n/a	n/a
45	POLR2A	chr22:30970953-30972323	HL-60	blood:	n/a	n/a
46	CTCF	chr22:30971020-30971170	GM12873	blood:	n/a	n/a
47	CTCF	chr22:30971040-30971190	BE2_C	brain:	n/a	n/a
48	CTCF	chr22:30971080-30971230	HRE	kidney:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
49	POLR2A	chr22:30970707-30972267	K562	blood:	n/a	n/a
50	POLR2A	chr22:30970689-30972410	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30969461..30973158-chr22:30985013..30988022,5	MCF-7	breast:
2	chr22:30964660..30967632-chr22:30970789..30972723,2	MCF-7	breast:
3	chr22:30970968..30972609-chr22:30985302..30987086,2	K562	blood:
4	chr22:30964568..30966833-chr22:30970828..30972723,3	MCF-7	breast:
5	chr22:30968308..30971950-chr22:30982173..30985267,5	K562	blood:
6	chr22:30968228..30973884-chr22:30985019..30988219,5	MCF-7	breast:

Variant related genes	Relation type
GAL3ST1	TF binding region
ENSG00000100029	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3377293	chr22:30969852-30971750	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30964400-30979600	Weak transcription	K562	blood
2	chr22:30967000-30971600	Enhancers	Placenta	Placenta
3	chr22:30967800-30971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:30968000-30971600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:30968400-30971200	Weak transcription	Dnd41	blood
6	chr22:30968600-30971200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr22:30968800-30971200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:30968800-30971200	Weak transcription	HMEC	breast
9	chr22:30968800-30971800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr22:30969000-30971200	Enhancers	Lung	lung
11	chr22:30969000-30971400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:30969000-30971600	Active TSS	Rectal Smooth Muscle	rectum
13	chr22:30969600-30971200	Active TSS	Brain Substantia Nigra	brain
14	chr22:30970000-30971400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr22:30970000-30971400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr22:30970000-30971400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:30970000-30971400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:30970000-30971600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr22:30970000-30977200	Weak transcription	Hela-S3	cervix
20	chr22:30970200-30971200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr22:30970200-30971200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr22:30970200-30971600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr22:30970200-30971600	Enhancers	Psoas Muscle	Psoas
24	chr22:30970200-30971600	Enhancers	NHDF-Ad	bronchial
25	chr22:30970400-30971200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:30970400-30971200	Active TSS	Aorta	Aorta
27	chr22:30970400-30971200	Weak transcription	Esophagus	oesophagus
28	chr22:30970400-30971400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:30970400-30972000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr22:30970400-30975000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr22:30970400-30975600	Weak transcription	Fetal Brain Male	brain
32	chr22:30970400-30983200	Weak transcription	Fetal Kidney	kidney
33	chr22:30970600-30971200	Weak transcription	Gastric	stomach
34	chr22:30970600-30971600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr22:30970600-30971800	Enhancers	Liver	Liver
36	chr22:30970800-30971200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr22:30970800-30971200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:30970800-30971200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr22:30970800-30971200	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr22:30970800-30971200	Flanking Active TSS	Fetal Brain Female	brain
41	chr22:30970800-30971200	Flanking Active TSS	Fetal Heart	heart
42	chr22:30970800-30971200	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr22:30970800-30971200	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr22:30970800-30971200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr22:30970800-30971200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr22:30970800-30971200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
47	chr22:30970800-30971400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
48	chr22:30970800-30971400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr22:30970800-30971400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr22:30970800-30971400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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