Variant report

Variant	rs570946882
Chromosome Location	chr2:20442124-20442125
allele	-/CCTGGG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:182)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:182 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:20442036-20442276	GM12878	blood:	n/a	n/a
2	YY1	chr2:20442086-20442296	GM12891	blood:	n/a	n/a
3	YY1	chr2:20442097-20442254	K562	blood:	n/a	n/a
4	CTCF	chr2:20442100-20442250	HPF	lung:	n/a	n/a
5	RAD21	chr2:20442021-20442282	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr2:20442065-20442290	NHEK	skin:	n/a	n/a
7	CTCF	chr2:20442027-20442288	HepG2	liver:	n/a	n/a
8	SP4	chr2:20441918-20442167	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr2:20442120-20442270	GM12864	blood:	n/a	n/a
10	CTCF	chr2:20441903-20442272	HepG2	liver:	n/a	n/a
11	CTCF	chr2:20442120-20442270	AG09319	gingival:	n/a	n/a
12	CTCF	chr2:20442060-20442210	NHEK	skin:	n/a	n/a
13	CTCF	chr2:20442100-20442250	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr2:20442002-20442296	GM19238	blood:	n/a	n/a
15	CTCF	chr2:20442080-20442230	GM12865	blood:	n/a	n/a
16	CTCF	chr2:20442100-20442250	A549	lung:	n/a	n/a
17	CTCF	chr2:20442071-20442272	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr2:20442072-20442282	A549	lung:	n/a	n/a
19	RAD21	chr2:20441993-20442272	K562	blood:	n/a	n/a
20	CTCF	chr2:20442060-20442210	GM12867	blood:	n/a	n/a
21	CTCF	chr2:20442120-20442270	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr2:20442080-20442230	AG09319	gingival:	n/a	n/a
23	RAD21	chr2:20441998-20442306	HepG2	liver:	n/a	n/a
24	CTCF	chr2:20442120-20442270	AoAF	blood vessel:	n/a	n/a
25	CTCF	chr2:20442100-20442250	AoAF	blood vessel:	n/a	n/a
26	HMGN3	chr2:20441950-20442268	K562	blood:	n/a	n/a
27	CTCF	chr2:20442120-20442270	NHLF	lung:	n/a	n/a
28	CTCF	chr2:20442040-20442190	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr2:20442023-20442255	GM20000	blood:	n/a	n/a
30	JUND	chr2:20442046-20442238	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr2:20442083-20442266	GM19239	blood:	n/a	n/a
32	E2F6	chr2:20442031-20442258	K562	blood:	n/a	n/a
33	CTCF	chr2:20441535-20442938	A549	lung:	n/a	chr2:20442906-20442915 chr2:20442579-20442588
34	CTCF	chr2:20442083-20442287	HepG2	liver:	n/a	n/a
35	CTCF	chr2:20442100-20442250	GM12869	blood:	n/a	n/a
36	CTCF	chr2:20441940-20442210	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr2:20442100-20442250	GM12870	blood:	n/a	n/a
38	CTCF	chr2:20442107-20442262	GM13976	blood:	n/a	n/a
39	CTCF	chr2:20442051-20442288	GM13977	blood:	n/a	n/a
40	CTCF	chr2:20442100-20442250	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr2:20441980-20442130	GM12870	blood:	n/a	n/a
42	CTCF	chr2:20442075-20442278	Fibrobl	skin:	n/a	n/a
43	ZBTB7A	chr2:20442004-20442275	K562	blood:	n/a	n/a
44	CTCF	chr2:20442014-20442310	IMR90	lung:	n/a	n/a
45	CTCF	chr2:20442080-20442230	GM12871	blood:	n/a	n/a
46	CTCF	chr2:20441997-20442365	GM12878	blood:	n/a	n/a
47	CTCF	chr2:20442092-20442248	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr2:20442120-20442270	HMEC	breast:	n/a	n/a
49	CTCF	chr2:20442120-20442270	GM12865	blood:	n/a	n/a
50	CTCF	chr2:20442060-20442210	HRE	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20442088-20442138	AG10803	skin:	n/a
2	chr2:20442088-20442138	BJ	skin:	n/a
3	chr2:20442088-20442138	HCPEpiC	choroid plexus:	n/a
4	chr2:20442088-20442138	ECC-1	luminal epithelium:	n/a
5	chr2:20442088-20442138	AG04450	lung:	fetal
6	chr2:20442088-20442138	HMEC	breast:	n/a
7	chr2:20442088-20442138	Hepatocyte	liver:	n/a
8	chr2:20442088-20442138	HUVEC	blood vessel:	n/a
9	chr2:20442088-20442138	ovcar-3	ovarian:	n/a
10	chr2:20442088-20442138	NB4	blood:	n/a
11	chr2:20442088-20442138	PANC-1	pancreas:	n/a
12	chr2:20442088-20442138	BE2_C	brain:	n/a
13	chr2:20442088-20442138	CMK	blood:	n/a
14	chr2:20442088-20442138	HIPEpiC	eye:	n/a
15	chr2:20442088-20442138	GM19239	blood:	n/a
16	chr2:20442088-20442138	HRPEpiC	eye:	n/a
17	chr2:20442088-20442138	Hela-S3	cervix:	n/a
18	chr2:20442088-20442138	HEEpiC	esophagus:	n/a
19	chr2:20442088-20442138	HNPCEpiC	eye:	n/a
20	chr2:20442088-20442138	NHBE	bronchial:	n/a
21	chr2:20442088-20442138	SK-N-SH_RA	brain:	n/a
22	chr2:20442088-20442138	HL-60	blood:	n/a
23	chr2:20442088-20442138	Jurkat	blood:	n/a
24	chr2:20442088-20442138	IMR90	lung:	fetal
25	chr2:20442088-20442138	SKMC	muscle:	n/a
26	chr2:20442088-20442138	Caco-2	colon:	n/a
27	chr2:20442088-20442138	HEK293	kidney:	embryo
28	chr2:20442088-20442138	AoSMC	blood vessel:	n/a
29	chr2:20442088-20442138	PFSK-1	brain:	n/a
30	chr2:20442088-20442138	NT2-D1	testis:	n/a
31	chr2:20442088-20442138	AG04449	skin:	fetal
32	chr2:20442088-20442138	SAEC	small airway:	n/a
33	chr2:20442088-20442138	GM06990	blood:	n/a
34	chr2:20442088-20442138	HRCEpiC	kidney:	n/a
35	chr2:20442088-20442138	H1-hESC	embryonic stem cell:	embryo
36	chr2:20442088-20442138	HCM	heart:	n/a
37	chr2:20442088-20442138	HCT-116	colon:	n/a
38	chr2:20442088-20442138	HPAEpiC	pulmonary alveolar:	n/a
39	chr2:20442088-20442138	LNCaP	prostate:	n/a
40	chr2:20442088-20442138	A549	lung:	n/a
41	chr2:20442088-20442138	MCF-7	breast:	n/a
42	chr2:20442088-20442138	K562	blood:	n/a
43	chr2:20442088-20442138	NH-A	brain:	n/a
44	chr2:20442088-20442138	HCF	heart:	n/a
45	chr2:20442088-20442138	U87	brain:	n/a
46	chr2:20442088-20442138	GM12892	blood:	n/a
47	chr2:20442088-20442138	ProgFib	skin:	n/a
48	chr2:20442088-20442138	HAEpiC	amniotic membrane:	n/a
49	chr2:20442088-20442138	T-47D	breast:	n/a
50	chr2:20442088-20442138	RPTEC	kidney:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20441705..20442588-chr2:20850479..20850992,2	K562	blood:
2	chr2:20422151..20423763-chr2:20440457..20442911,2	MCF-7	breast:
3	chr2:20425935..20426603-chr2:20441699..20442616,3	MCF-7	breast:
4	chr2:20335122..20335719-chr2:20442089..20442630,2	K562	blood:
5	chr2:20438741..20440683-chr2:20441500..20444456,2	MCF-7	breast:
6	chr2:20437602..20439619-chr2:20440851..20444211,3	MCF-7	breast:
7	chr2:20441679..20444514-chr2:20449489..20452544,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235411	TF binding region
ENSG00000235411	CpG island
ENSG00000118960	Chromatin interaction
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798036	chr2:20423264-20442631	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv1846193	chr2:20423264-20442631	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1849406	chr2:20423264-20442631	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1819683	chr2:20423264-20455467	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3449290	chr2:20441521-20443469	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3438551	chr2:20442021-20443019	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20426000-20447000	Weak transcription	GM12878-XiMat	blood
2	chr2:20431400-20446800	Weak transcription	Spleen	Spleen
3	chr2:20431800-20444200	Weak transcription	A549	lung
4	chr2:20431800-20446200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:20433000-20450200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:20433000-20451200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:20436200-20446600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:20436200-20447000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:20436600-20452600	Weak transcription	Gastric	stomach
10	chr2:20436800-20445800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:20437000-20446400	Weak transcription	Hela-S3	cervix
12	chr2:20437000-20447000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:20437000-20453000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:20437800-20448000	Weak transcription	HMEC	breast
15	chr2:20438000-20445600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:20439400-20447200	Weak transcription	Primary B cells from cord blood	blood
17	chr2:20439800-20450200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:20440200-20444400	Enhancers	Placenta	Placenta
19	chr2:20440600-20443000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:20440600-20446600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:20440600-20447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:20440600-20451000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:20440600-20452600	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:20440800-20445600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:20440800-20452200	Weak transcription	Brain Angular Gyrus	brain
26	chr2:20440800-20452600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:20441400-20442200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr2:20441400-20442800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:20441400-20453000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:20441600-20442200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr2:20441600-20442200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:20441600-20442200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:20441800-20442200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr2:20441800-20442200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:20441800-20442200	Enhancers	Esophagus	oesophagus
36	chr2:20441800-20442200	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr2:20441800-20442200	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr2:20441800-20442200	Enhancers	Right Ventricle	heart
39	chr2:20441800-20442200	Enhancers	Stomach Mucosa	stomach
40	chr2:20441800-20442200	Enhancers	K562	blood
41	chr2:20441800-20442400	Enhancers	HepG2	liver
42	chr2:20441800-20442600	Enhancers	Fetal Thymus	thymus
43	chr2:20441800-20442800	Enhancers	Primary hematopoietic stem cells	blood
44	chr2:20441800-20443200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:20441800-20447000	Weak transcription	Adipose Nuclei	Adipose
46	chr2:20441800-20447000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:20442000-20442200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr2:20442000-20442200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr2:20442000-20442200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:20442000-20442200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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