Variant report

Variant	rs530779538
Chromosome Location	chr2:211036823-211036824
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	POLR2A	chr2:211034447-211036957	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr2:211036074-211036869	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:211034499-211036993	GM19099	blood:	n/a	n/a
4	SPI1	chr2:211036766-211037014	GM12891	blood:	n/a	n/a
5	MAZ	chr2:211034809-211037072	GM12878	blood:	n/a	chr2:211035504-211035519 chr2:211035507-211035516 chr2:211035505-211035514 chr2:211035506-211035515 chr2:211035570-211035579 chr2:211035504-211035517 chr2:211035506-211035516 chr2:211035508-211035515 chr2:211035505-211035516 chr2:211035504-211035517 chr2:211035572-211035581 chr2:211035571-211035582 chr2:211036141-211036151 chr2:211035504-211035517 chr2:211035504-211035517 chr2:211035505-211035516
6	SMC3	chr2:211036114-211036881	Hela-S3	cervix:	n/a	chr2:211036218-211036232 chr2:211036222-211036232
7	POLR2A	chr2:211036734-211036930	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr2:211034415-211036988	GM18951	blood:	n/a	n/a
9	KAP1	chr2:211036200-211036975	HEK293	kidney:	n/a	n/a
10	MAX	chr2:211034957-211036988	HepG2	liver:	n/a	chr2:211035504-211035519 chr2:211035506-211035516 chr2:211035507-211035516 chr2:211035505-211035514 chr2:211035506-211035515 chr2:211035570-211035579 chr2:211035504-211035517 chr2:211035506-211035516 chr2:211035508-211035515 chr2:211035505-211035516 chr2:211035504-211035517 chr2:211035572-211035581 chr2:211035571-211035582 chr2:211036141-211036151 chr2:211035504-211035517 chr2:211035504-211035517 chr2:211035505-211035516
11	SETDB1	chr2:211036310-211036924	U2OS	brain:	n/a	n/a
12	RELA	chr2:211035005-211036875	GM18951	blood:	n/a	chr2:211036212-211036221 chr2:211036212-211036221
13	JUN	chr2:211036489-211036841	K562	blood:	n/a	n/a
14	TCF7L2	chr2:211036166-211037003	Hela-S3	cervix:	n/a	n/a
15	RELA	chr2:211034712-211036942	GM15510	blood:	n/a	chr2:211036212-211036221 chr2:211036212-211036221
16	POLR2A	chr2:211034433-211037263	MCF10A-Er-Src	breast:	n/a	n/a
17	MYBL2	chr2:211036006-211037044	HepG2	liver:	n/a	n/a
18	SPI1	chr2:211036704-211037166	HL-60	blood:	n/a	n/a
19	MAZ	chr2:211035066-211036886	K562	blood:	n/a	chr2:211035504-211035519 chr2:211035507-211035516 chr2:211035505-211035514 chr2:211035506-211035515 chr2:211035570-211035579 chr2:211035504-211035517 chr2:211035506-211035516 chr2:211035508-211035515 chr2:211035505-211035516 chr2:211035504-211035517 chr2:211035572-211035581 chr2:211035571-211035582 chr2:211036141-211036151 chr2:211035504-211035517 chr2:211035504-211035517 chr2:211035505-211035516
20	TCF12	chr2:211036772-211036968	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF263	chr2:211035675-211037092	HEK293-T-REx	kidney:	n/a	n/a
22	MXI1	chr2:211034748-211036883	HepG2	liver:	n/a	chr2:211035505-211035514 chr2:211035573-211035582
23	RUNX3	chr2:211036718-211037085	GM12878	blood:	n/a	chr2:211036893-211036908
24	RELA	chr2:211034670-211037069	GM12891	blood:	n/a	chr2:211036212-211036221 chr2:211036212-211036221
25	POLR2A	chr2:211034431-211037111	GM12891	blood:	n/a	n/a
26	HA-E2F1	chr2:211035034-211037062	MCF-7	breast:	n/a	chr2:211036882-211036892 chr2:211036229-211036239 chr2:211035525-211035534 chr2:211036225-211036234 chr2:211036204-211036216
27	SIN3A	chr2:211034793-211037098	H1-hESC	embryonic stem cell:	n/a	chr2:211035892-211035903 chr2:211035802-211035813 chr2:211035573-211035582
28	POLR2A	chr2:211034745-211037060	Raji	blood:	n/a	n/a
29	ZNF384	chr2:211036159-211037013	K562	blood:	n/a	n/a
30	MXI1	chr2:211034344-211037133	IMR90	lung:	n/a	chr2:211035505-211035514 chr2:211035573-211035582
31	CTCF	chr2:211036760-211036910	GM06990	blood:	n/a	n/a
32	KAP1	chr2:211036291-211037115	U2OS	brain:	n/a	n/a
33	REST	chr2:211035499-211037056	HL-60	blood:	n/a	chr2:211035797-211035810 chr2:211036879-211036892 chr2:211036138-211036151 chr2:211036222-211036235
34	CTCF	chr2:211036768-211036863	GM12878	blood:	n/a	n/a
35	RCOR1	chr2:211036761-211037123	K562	blood:	n/a	n/a
36	POLR2A	chr2:211036788-211036874	H1-hESC	embryonic stem cell:	n/a	n/a
37	REST	chr2:211036655-211036942	SK-N-SH	brain:	n/a	chr2:211036879-211036892
38	MXI1	chr2:211036136-211036934	H1-hESC	embryonic stem cell:	n/a	n/a
39	SIN3AK20	chr2:211036699-211036898	H1-hESC	embryonic stem cell:	n/a	n/a
40	EP300	chr2:211036796-211036996	GM12878	blood:	n/a	n/a
41	REST	chr2:211034768-211036889	H1-neurons	neurons:	n/a	chr2:211035797-211035810 chr2:211036138-211036151 chr2:211036222-211036235
42	CTCF	chr2:211036740-211036890	AG10803	skin:	n/a	n/a
43	TCF12	chr2:211034950-211037074	ECC-1	luminal epithelium:	n/a	chr2:211035903-211035910
44	MXI1	chr2:211033551-211037427	SK-N-SH	brain:	n/a	chr2:211035505-211035514 chr2:211035573-211035582
45	EP300	chr2:211036641-211036911	GM12878	blood:	n/a	chr2:211036724-211036738
46	RCOR1	chr2:211036109-211037081	Hela-S3	cervix:	n/a	n/a
47	MAFF	chr2:211036770-211036926	K562	blood:	n/a	n/a
48	GATA2	chr2:211036169-211037195	SH-SY5Y	brain:	n/a	n/a
49	ZNF384	chr2:211036727-211037186	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:211036822-211036872	HIPEpiC	eye:	n/a
2	chr2:211036822-211036872	Hela-S3	cervix:	n/a
3	chr2:211036822-211036872	U87	brain:	n/a
4	chr2:211036822-211036872	GM19239	blood:	n/a
5	chr2:211036822-211036872	MCF10A-Er-Src	breast:	n/a
6	chr2:211036822-211036872	NHBE	bronchial:	n/a
7	chr2:211036822-211036872	HL-60	blood:	n/a
8	chr2:211036822-211036872	PrEC	prostate:	n/a
9	chr2:211036822-211036872	HNPCEpiC	eye:	n/a
10	chr2:211036822-211036872	LNCaP	prostate:	n/a
11	chr2:211036822-211036872	AG10803	skin:	n/a
12	chr2:211036822-211036872	PFSK-1	brain:	n/a
13	chr2:211036822-211036872	AG04449	skin:	fetal
14	chr2:211036822-211036872	IMR90	lung:	fetal
15	chr2:211036822-211036872	GM12891	blood:	n/a
16	chr2:211036822-211036872	K562	blood:	n/a
17	chr2:211036822-211036872	HCPEpiC	choroid plexus:	n/a
18	chr2:211036822-211036872	PANC-1	pancreas:	n/a
19	chr2:211036822-211036872	ovcar-3	ovarian:	n/a
20	chr2:211036822-211036872	NHDF-neo	bronchial:	n/a
21	chr2:211036822-211036872	ECC-1	luminal epithelium:	n/a
22	chr2:211036822-211036872	GM06990	blood:	n/a
23	chr2:211036822-211036872	BE2_C	brain:	n/a
24	chr2:211036822-211036872	A549	lung:	n/a
25	chr2:211036822-211036872	T-47D	breast:	n/a
26	chr2:211036822-211036872	Jurkat	blood:	n/a
27	chr2:211036822-211036872	MCF-7	breast:	n/a
28	chr2:211036822-211036872	HRCEpiC	kidney:	n/a
29	chr2:211036822-211036872	HCM	heart:	n/a
30	chr2:211036822-211036872	SK-N-MC	brain:	n/a
31	chr2:211036822-211036872	NH-A	brain:	n/a
32	chr2:211036822-211036872	SKMC	muscle:	n/a
33	chr2:211036822-211036872	HAEpiC	amniotic membrane:	n/a
34	chr2:211036822-211036872	SK-N-SH	brain:	n/a
35	chr2:211036822-211036872	GM12878	blood:	n/a
36	chr2:211036822-211036872	BJ	skin:	n/a
37	chr2:211036822-211036872	RPTEC	kidney:	n/a
38	chr2:211036822-211036872	AG09319	gingival:	n/a
39	chr2:211036822-211036872	HRPEpiC	eye:	n/a
40	chr2:211036822-211036872	AG04450	lung:	fetal
41	chr2:211036822-211036872	SAEC	small airway:	n/a
42	chr2:211036822-211036872	Caco-2	colon:	n/a
43	chr2:211036822-211036872	HRE	kidney:	n/a
44	chr2:211036822-211036872	HMEC	breast:	n/a
45	chr2:211036822-211036872	HUVEC	blood vessel:	n/a
46	chr2:211036822-211036872	AG09309	skin:	n/a
47	chr2:211036822-211036872	Hepatocyte	liver:	n/a
48	chr2:211036822-211036872	HEEpiC	esophagus:	n/a
49	chr2:211036822-211036872	ProgFib	skin:	n/a
50	chr2:211036822-211036872	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:210866282..210870548-chr2:211034114..211037570,6	MCF-7	breast:
2	chr2:210866819..210870543-chr2:211034282..211037464,4	K562	blood:
3	chr2:208633171..208635747-chr2:211035528..211037623,2	MCF-7	breast:
4	chr2:210865937..210867928-chr2:211034610..211037287,3	MCF-7	breast:
5	chr2:210813951..210816642-chr2:211034382..211037269,2	K562	blood:
6	chr2:210866819..210868675-chr2:211034282..211036994,3	K562	blood:
7	chr2:211032641..211035129-chr2:211036259..211038578,2	MCF-7	breast:

Variant related genes	Relation type
KANSL1L	TF binding region
ENSG00000263530	TF binding region
KANSL1L	CpG island
ENSG00000263530	CpG island
ENSG00000144406	Chromatin interaction
ENSG00000197713	Chromatin interaction
ENSG00000163251	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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3380825	chr2:211035207-211037105	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211033000-211038000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:211033200-211037200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:211033200-211037400	Active TSS	Right Atrium	heart
4	chr2:211033200-211037800	Active TSS	Fetal Kidney	kidney
5	chr2:211033200-211037800	Active TSS	Thymus	Thymus
6	chr2:211033400-211037000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:211033400-211037200	Active TSS	GM12878-XiMat	blood
8	chr2:211033400-211037800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr2:211033600-211037000	Active TSS	Fetal Brain Female	brain
10	chr2:211033600-211037200	Active TSS	Aorta	Aorta
11	chr2:211033600-211037400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:211033800-211037200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:211033800-211037200	Active TSS	Ovary	ovary
14	chr2:211033800-211037400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:211033800-211037400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:211033800-211037400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:211033800-211037400	Active TSS	Psoas Muscle	Psoas
18	chr2:211033800-211037400	Active TSS	HSMMtube	muscle
19	chr2:211033800-211037600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:211034000-211037000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr2:211034000-211037000	Active TSS	Rectal Smooth Muscle	rectum
22	chr2:211034000-211037200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr2:211034000-211037400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:211034000-211037400	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr2:211034000-211037400	Active TSS	NHDF-Ad	bronchial
26	chr2:211034000-211037600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:211034000-211037800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:211034200-211037000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:211034200-211037000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:211034200-211037000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:211034200-211037000	Active TSS	Fetal Intestine Large	intestine
32	chr2:211034200-211037000	Active TSS	Fetal Lung	lung
33	chr2:211034200-211037000	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr2:211034200-211037200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:211034200-211037200	Active TSS	Stomach Mucosa	stomach
36	chr2:211034200-211037400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr2:211034200-211037400	Active TSS	Right Ventricle	heart
38	chr2:211034400-211037000	Active TSS	Brain Anterior Caudate	brain
39	chr2:211034400-211037000	Active TSS	Duodenum Mucosa	Duodenum
40	chr2:211034400-211037000	Active TSS	Placenta Amnion	Placenta Amnion
41	chr2:211034400-211037200	Active TSS	Brain Cingulate Gyrus	brain
42	chr2:211034400-211037200	Active TSS	Colon Smooth Muscle	Colon
43	chr2:211034400-211037200	Active TSS	Fetal Muscle Trunk	muscle
44	chr2:211034400-211037400	Active TSS	H1 Cell Line	embryonic stem cell
45	chr2:211034400-211037400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:211034400-211037800	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr2:211034400-211037800	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr2:211034600-211037000	Active TSS	Fetal Intestine Small	intestine
49	chr2:211034600-211037200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:211034600-211037200	Active TSS	HUES48 Cell Line	embryonic stem cell

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