Variant report

Variant	rs113590335
Chromosome Location	chr2:55745808-55745809
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr2:55745801-55748323	SK-N-SH	brain:	n/a	chr2:55746663-55746672 chr2:55746766-55746781 chr2:55746766-55746781 chr2:55746765-55746782 chr2:55746766-55746781
2	POLR2A	chr2:55745777-55747534	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr2:55745581-55748344	SK-N-SH	brain:	n/a	chr2:55746765-55746780 chr2:55746767-55746782

No.	Distal block	Cell Line	Cell type
1	chr2:55745428..55748041-chr2:55756685..55759151,2	MCF-7	breast:
2	chr2:55645285..55648583-chr2:55744780..55749543,7	K562	blood:
3	chr2:55745295..55748178-chr2:55844853..55846436,2	K562	blood:
4	chr2:55744096..55746536-chr2:55841814..55844683,2	K562	blood:
5	chr2:55645285..55648583-chr2:55745099..55748276,4	K562	blood:
6	chr2:55745086..55746689-chr2:55776287..55778878,2	MCF-7	breast:

Variant related genes	Relation type
CCDC104	TF binding region
ENSG00000138041	Chromatin interaction
ENSG00000272606	Chromatin interaction
ENSG00000115355	Chromatin interaction
ENSG00000163001	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv1973469	chr2:55745808-55745809	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55744400-55746000	Enhancers	Placenta	Placenta
2	chr2:55744600-55746200	Weak transcription	Gastric	stomach
3	chr2:55745200-55747600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:55745200-55748200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr2:55745400-55747200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:55745400-55747600	Active TSS	Brain Hippocampus Middle	brain
7	chr2:55745400-55747800	Active TSS	A549	lung
8	chr2:55745600-55748200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:55745800-55746000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:55745800-55746000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:55745800-55746000	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:55745800-55746000	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr2:55745800-55746000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr2:55745800-55746000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:55745800-55746000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:55745800-55746000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:55745800-55746000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:55745800-55746000	Enhancers	Fetal Heart	heart
19	chr2:55745800-55746000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:55745800-55746000	Enhancers	Small Intestine	intestine
21	chr2:55745800-55746000	Enhancers	Stomach Mucosa	stomach
22	chr2:55745800-55746000	Active TSS	Monocytes-CD14+_RO01746	blood
23	chr2:55745800-55746200	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr2:55745800-55746200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr2:55745800-55746200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:55745800-55746200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr2:55745800-55746200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr2:55745800-55746200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:55745800-55746200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:55745800-55746200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr2:55745800-55746200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:55745800-55746200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr2:55745800-55746200	Flanking Active TSS	Liver	Liver
34	chr2:55745800-55746200	Flanking Active TSS	Fetal Lung	lung
35	chr2:55745800-55746200	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr2:55745800-55746200	Flanking Active TSS	Hela-S3	cervix
37	chr2:55745800-55746200	Active TSS	HepG2	liver
38	chr2:55745800-55746200	Flanking Active TSS	NHEK	skin
39	chr2:55745800-55746200	Flanking Active TSS	Osteobl	bone
40	chr2:55745800-55746400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr2:55745800-55746400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr2:55745800-55746400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr2:55745800-55746400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:55745800-55746400	Flanking Active TSS	Fetal Brain Male	brain
45	chr2:55745800-55746400	Flanking Active TSS	Fetal Thymus	thymus
46	chr2:55745800-55746400	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr2:55745800-55746400	Flanking Active TSS	Dnd41	blood
48	chr2:55745800-55746600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:55745800-55746800	Active TSS	Brain Germinal Matrix	brain
50	chr2:55745800-55747000	Active TSS	iPS-20b Cell Line	embryonic stem cell

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