Variant report

Variant	rs573997698
Chromosome Location	chr2:97559510-97559511
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97557941..97560811-chr2:97624763..97627667,2	MCF-7	breast:
2	chr2:97545881..97548014-chr2:97558703..97560346,2	K562	blood:
3	chr2:97530555..97533487-chr2:97558228..97559890,3	K562	blood:
4	chr2:97558219..97561795-chr2:97617145..97620359,3	K562	blood:
5	chr2:97530555..97532219-chr2:97558372..97559890,2	K562	blood:
6	chr2:97557540..97561219-chr2:97615825..97618671,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168754	Chromatin interaction
ENSG00000168758	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	esv3338876	chr2:97559250-97561798	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	esv3325388	chr2:97559400-97561723	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97552600-97560800	Weak transcription	Hela-S3	cervix
2	chr2:97554200-97560800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:97554400-97561000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:97554400-97563400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:97554600-97563400	Weak transcription	Fetal Heart	heart
6	chr2:97554800-97561200	Weak transcription	Fetal Brain Female	brain
7	chr2:97555000-97560800	Weak transcription	Fetal Brain Male	brain
8	chr2:97555000-97561200	Weak transcription	Pancreas	Pancrea
9	chr2:97555600-97559800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:97555800-97559800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:97556000-97560000	Transcr. at gene 5' and 3'	K562	blood
12	chr2:97556000-97560200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:97556000-97560200	Enhancers	Brain Hippocampus Middle	brain
14	chr2:97556000-97562200	Enhancers	Brain Anterior Caudate	brain
15	chr2:97556200-97559600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr2:97556200-97559800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:97556200-97560000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:97556200-97560000	Enhancers	Psoas Muscle	Psoas
19	chr2:97556200-97560200	Enhancers	Primary T cells from cord blood	blood
20	chr2:97556200-97560200	Enhancers	Brain Angular Gyrus	brain
21	chr2:97556200-97560200	Enhancers	Brain Substantia Nigra	brain
22	chr2:97556200-97562200	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:97556200-97562400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:97556400-97559800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:97556400-97560200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:97556400-97565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:97556600-97566000	Enhancers	Fetal Thymus	thymus
28	chr2:97556800-97562600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:97557000-97561000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:97557200-97560000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr2:97557200-97561200	Weak transcription	Thymus	Thymus
32	chr2:97557400-97560800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:97557400-97560800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:97557400-97561000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:97557400-97561000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:97557600-97560800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:97557600-97561000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:97557600-97561000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:97557600-97561200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:97557600-97561200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:97557800-97560200	Enhancers	Placenta	Placenta
42	chr2:97557800-97560800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:97557800-97560800	Weak transcription	Small Intestine	intestine
44	chr2:97557800-97560800	Weak transcription	A549	lung
45	chr2:97557800-97561000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:97557800-97561200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:97557800-97561200	Weak transcription	Gastric	stomach
48	chr2:97557800-97561200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:97557800-97563200	Weak transcription	Osteobl	bone
50	chr2:97558000-97560800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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