Variant report

Variant	rs145714057
Chromosome Location	chr1:226558467-226558468
allele	A/C
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	RUNX3	chr1:226558279-226558617	GM12878	blood:	n/a	n/a
2	MTA3	chr1:226558151-226558655	GM12878	blood:	n/a	n/a
3	PAX5	chr1:226558101-226558739	GM12878	blood:	n/a	chr1:226558439-226558458
4	PAX5	chr1:226558195-226558589	GM12878	blood:	n/a	chr1:226558439-226558458
5	PAX5	chr1:226558273-226558585	GM12891	blood:	n/a	chr1:226558439-226558458
6	PAX5	chr1:226558214-226558695	GM12892	blood:	n/a	chr1:226558439-226558458
7	PAX5	chr1:226558239-226558640	GM12892	blood:	n/a	chr1:226558439-226558458
8	PAX5	chr1:226558340-226558592	GM12891	blood:	n/a	chr1:226558439-226558458
9	EBF1	chr1:226558304-226558541	GM12878	blood:	n/a	n/a
10	PAX5	chr1:226558055-226558600	GM12878	blood:	n/a	chr1:226558439-226558458
11	EBF1	chr1:226558342-226558570	GM12878	blood:	n/a	n/a
12	EBF1	chr1:226558227-226558617	GM12878	blood:	n/a	n/a
13	PAX5	chr1:226558335-226558575	GM12878	blood:	n/a	chr1:226558439-226558458

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226550494..226555291-chr1:226557365..226562090,4	MCF-7	breast:

Variant related genes	Relation type
PARP1	TF binding region
ENSG00000143799	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv527874	chr1:226557878-226562779	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226538400-226566800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:226543000-226578400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:226543000-226582800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:226543000-226590800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:226543000-226590800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:226543000-226591400	Strong transcription	Primary T cells from cord blood	blood
7	chr1:226543200-226588600	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:226543200-226588600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:226543400-226580400	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr1:226543400-226590200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:226543400-226591400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:226543600-226590400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:226543600-226591400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:226544200-226590400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:226544600-226580200	Strong transcription	Stomach Smooth Muscle	stomach
16	chr1:226544600-226580400	Strong transcription	Fetal Stomach	stomach
17	chr1:226544600-226591800	Strong transcription	Dnd41	blood
18	chr1:226544800-226563400	Strong transcription	Spleen	Spleen
19	chr1:226544800-226590800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:226545000-226580400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:226545000-226590800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:226545200-226558600	Strong transcription	Brain Angular Gyrus	brain
23	chr1:226545200-226560000	Strong transcription	Colon Smooth Muscle	Colon
24	chr1:226545200-226569800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:226545200-226580200	Strong transcription	Ovary	ovary
26	chr1:226545200-226580400	Strong transcription	Fetal Intestine Large	intestine
27	chr1:226545200-226581000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:226545200-226581200	Strong transcription	Adipose Nuclei	Adipose
29	chr1:226545200-226582600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:226545200-226582800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr1:226545400-226560600	Strong transcription	Brain Anterior Caudate	brain
32	chr1:226545400-226560800	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr1:226545400-226568000	Strong transcription	Liver	Liver
34	chr1:226545400-226580000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:226545400-226580200	Strong transcription	Thymus	Thymus
36	chr1:226545400-226580400	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr1:226545400-226580400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:226545400-226580400	Strong transcription	Rectal Smooth Muscle	rectum
39	chr1:226545400-226581400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:226545400-226584000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:226545400-226590600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:226545600-226580200	Strong transcription	Esophagus	oesophagus
43	chr1:226545600-226581400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:226545600-226582800	Strong transcription	Fetal Thymus	thymus
45	chr1:226545600-226588200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr1:226545800-226579800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:226545800-226579800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:226545800-226580200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:226545800-226580200	Strong transcription	Pancreas	Pancrea
50	chr1:226545800-226581800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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