Variant report

Variant	rs534417244
Chromosome Location	chr2:54344228-54344229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
2	chr2:54340617..54344494-chr2:54480899..54484108,3	K562	blood:
3	chr2:54341806..54344770-chr2:54784235..54787039,2	MCF-7	breast:
4	chr2:54343136..54344762-chr2:54350422..54352755,2	K562	blood:
5	chr2:54343141..54345901-chr2:54421855..54423562,2	K562	blood:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction
ENSG00000115306	Chromatin interaction
ENSG00000178021	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54343200-54345200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr2:54343200-54347800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:54343200-54347800	Weak transcription	Spleen	Spleen
4	chr2:54343200-54350600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:54343400-54347400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr2:54343400-54347600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:54343400-54347600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:54343400-54347600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:54343400-54347600	Weak transcription	Thymus	Thymus
10	chr2:54343400-54347800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:54343400-54347800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:54343400-54347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:54343400-54347800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:54343400-54347800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:54343400-54347800	Weak transcription	Aorta	Aorta
16	chr2:54343400-54347800	Weak transcription	Colonic Mucosa	Colon
17	chr2:54343400-54347800	Weak transcription	Fetal Brain Female	brain
18	chr2:54343400-54347800	Weak transcription	Gastric	stomach
19	chr2:54343400-54347800	Weak transcription	Lung	lung
20	chr2:54343400-54347800	Weak transcription	Right Ventricle	heart
21	chr2:54343400-54347800	Weak transcription	HSMM	muscle
22	chr2:54343400-54348000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:54343400-54348000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:54343400-54348000	Weak transcription	Right Atrium	heart
25	chr2:54343400-54349000	Weak transcription	HSMMtube	muscle
26	chr2:54343400-54349400	Weak transcription	Psoas Muscle	Psoas
27	chr2:54343400-54349600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:54343400-54351000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr2:54343400-54353000	Weak transcription	Fetal Lung	lung
30	chr2:54343400-54388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:54343600-54344400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:54343600-54344400	ZNF genes & repeats	Dnd41	blood
33	chr2:54343600-54345000	Weak transcription	Liver	Liver
34	chr2:54343600-54346000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:54343600-54346000	Weak transcription	HUVEC	blood vessel
36	chr2:54343600-54347800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:54343600-54347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:54343600-54347800	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:54343600-54348000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:54343600-54348000	Weak transcription	Adipose Nuclei	Adipose
41	chr2:54343600-54348000	Weak transcription	NHLF	lung
42	chr2:54343600-54349000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:54343600-54349400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:54343600-54350000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:54343600-54350600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:54343800-54347800	Weak transcription	Brain Substantia Nigra	brain
47	chr2:54343800-54349000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:54343800-54349000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:54343800-54349400	Weak transcription	Fetal Heart	heart
50	chr2:54343800-54355800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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