Variant report

Variant	rs397948536
Chromosome Location	chr2:54343655-54343656
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54196743..54198781-chr2:54341566..54344110,2	K562	blood:
2	chr2:54342236..54343923-chr2:54879380..54882162,2	MCF-7	breast:
3	chr2:54341520..54343821-chr2:54682367..54684141,3	MCF-7	breast:
4	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
5	chr2:54340617..54344494-chr2:54480899..54484108,3	K562	blood:
6	chr2:54341806..54344770-chr2:54784235..54787039,2	MCF-7	breast:
7	chr2:54342420..54344092-chr20:46285600..46287785,2	MCF-7	breast:
8	chr2:54343136..54344762-chr2:54350422..54352755,2	K562	blood:
9	chr2:54341515..54343973-chr2:55337394..55340042,2	MCF-7	breast:
10	chr2:54341307..54344135-chr2:54557168..54559182,2	K562	blood:
11	chr2:54343141..54345901-chr2:54421855..54423562,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177994	Chromatin interaction
ENSG00000178021	Chromatin interaction
ENSG00000115306	Chromatin interaction
ENSG00000115310	Chromatin interaction
ENSG00000170634	Chromatin interaction
ENSG00000068878	Chromatin interaction
ENSG00000196562	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54341800-54344000	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr2:54342200-54343800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:54342200-54343800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:54342200-54344000	Active TSS	Brain Anterior Caudate	brain
5	chr2:54342200-54344000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:54342400-54343800	Active TSS	Brain Substantia Nigra	brain
7	chr2:54342400-54344000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:54342400-54344000	Active TSS	Primary T cells from cord blood	blood
9	chr2:54342400-54344000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr2:54342600-54343800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr2:54343200-54343800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:54343200-54344000	ZNF genes & repeats	K562	blood
13	chr2:54343200-54344200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:54343200-54344200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr2:54343200-54345200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr2:54343200-54347800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:54343200-54347800	Weak transcription	Spleen	Spleen
18	chr2:54343200-54350600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:54343400-54343800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:54343400-54343800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr2:54343400-54343800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr2:54343400-54343800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:54343400-54343800	Enhancers	Fetal Brain Male	brain
24	chr2:54343400-54343800	Enhancers	Fetal Heart	heart
25	chr2:54343400-54344000	Weak transcription	Left Ventricle	heart
26	chr2:54343400-54344000	Active TSS	Hela-S3	cervix
27	chr2:54343400-54344200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr2:54343400-54344200	ZNF genes & repeats	GM12878-XiMat	blood
29	chr2:54343400-54347400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:54343400-54347600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:54343400-54347600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:54343400-54347600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:54343400-54347600	Weak transcription	Thymus	Thymus
34	chr2:54343400-54347800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:54343400-54347800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:54343400-54347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:54343400-54347800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:54343400-54347800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:54343400-54347800	Weak transcription	Aorta	Aorta
40	chr2:54343400-54347800	Weak transcription	Colonic Mucosa	Colon
41	chr2:54343400-54347800	Weak transcription	Fetal Brain Female	brain
42	chr2:54343400-54347800	Weak transcription	Gastric	stomach
43	chr2:54343400-54347800	Weak transcription	Lung	lung
44	chr2:54343400-54347800	Weak transcription	Right Ventricle	heart
45	chr2:54343400-54347800	Weak transcription	HSMM	muscle
46	chr2:54343400-54348000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:54343400-54348000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:54343400-54348000	Weak transcription	Right Atrium	heart
49	chr2:54343400-54349000	Weak transcription	HSMMtube	muscle
50	chr2:54343400-54349400	Weak transcription	Psoas Muscle	Psoas

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