Variant report

Variant	rs565280537
Chromosome Location	chr2:54348059-54348060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr2:54347914-54348697	U2OS	brain:	n/a	n/a
2	POLR2A	chr2:54347984-54348077	ProgFib	skin:	n/a	n/a
3	KAP1	chr2:54348032-54348574	HEK293	kidney:	n/a	n/a
4	CTCF	chr2:54347920-54348070	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
2	chr2:54341176..54344555-chr2:54346430..54350020,7	K562	blood:
3	chr2:54294456..54296366-chr2:54347167..54348766,2	K562	blood:
4	chr2:54341176..54343229-chr2:54346629..54349067,2	K562	blood:
5	chr2:54195752..54197966-chr2:54347709..54349839,3	K562	blood:

No data

Variant related genes	Relation type
ACYP2	TF binding region
ENSG00000068878	Chromatin interaction
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv431069	chr2:54260132-54434049	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	esv1851003	chr2:54324701-54372931	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
10	nsv1007731	chr2:54331179-54452329	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	nsv535723	chr2:54331179-54452329	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	nsv961690	chr2:54339295-54359290	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
13	nsv1006984	chr2:54343466-54384094	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv874148	chr2:54344325-54432222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv1000652	chr2:54345892-54469703	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv1003889	chr2:54347750-54424601	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54343200-54350600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:54343400-54349000	Weak transcription	HSMMtube	muscle
3	chr2:54343400-54349400	Weak transcription	Psoas Muscle	Psoas
4	chr2:54343400-54349600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:54343400-54351000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:54343400-54353000	Weak transcription	Fetal Lung	lung
7	chr2:54343400-54388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:54343600-54349000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:54343600-54349400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:54343600-54350000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:54343600-54350600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:54343800-54349000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:54343800-54349000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:54343800-54349400	Weak transcription	Fetal Heart	heart
15	chr2:54343800-54355800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:54344000-54349000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:54344000-54349800	Weak transcription	Primary T cells from cord blood	blood
18	chr2:54344000-54349800	Weak transcription	Hela-S3	cervix
19	chr2:54344400-54348800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:54346800-54348400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr2:54347000-54348600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:54347000-54349400	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr2:54347200-54348400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr2:54347400-54349200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
25	chr2:54347600-54348200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:54347600-54348200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:54347600-54348400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:54347600-54348400	ZNF genes & repeats	Fetal Stomach	stomach
29	chr2:54347600-54348400	ZNF genes & repeats	Thymus	Thymus
30	chr2:54347600-54348600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:54347600-54348600	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr2:54347800-54348200	ZNF genes & repeats	Aorta	Aorta
33	chr2:54347800-54348200	ZNF genes & repeats	Brain Substantia Nigra	brain
34	chr2:54347800-54348200	Genic enhancers	Gastric	stomach
35	chr2:54347800-54348200	ZNF genes & repeats	Lung	lung
36	chr2:54347800-54348200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:54347800-54348400	Strong transcription	Brain Anterior Caudate	brain
38	chr2:54347800-54348400	ZNF genes & repeats	Fetal Brain Female	brain
39	chr2:54347800-54348400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
40	chr2:54347800-54348400	ZNF genes & repeats	Spleen	Spleen
41	chr2:54347800-54348400	ZNF genes & repeats	HSMM	muscle
42	chr2:54347800-54348600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:54347800-54348600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:54347800-54348600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
45	chr2:54347800-54348600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:54347800-54348600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:54347800-54348600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:54347800-54348600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:54347800-54348600	ZNF genes & repeats	Liver	Liver
50	chr2:54347800-54348600	ZNF genes & repeats	Colonic Mucosa	Colon

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