Variant report

Variant	rs3219134
Chromosome Location	chr1:226554265-226554266
allele	A/G
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	MXI1	chr1:226553809-226554404	SK-N-SH	brain:	n/a	n/a
2	EP300	chr1:226550536-226554592	SK-N-SH	brain:	n/a	chr1:226553527-226553536 chr1:226553624-226553633
3	BCL3	chr1:226553955-226554371	GM12878	blood:	n/a	n/a
4	GATA2	chr1:226554000-226554314	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:226553215..226554821-chr1:226756325..226758974,2	MCF-7	breast:
2	chr1:226553979..226556630-chr1:226568250..226570630,2	K562	blood:
3	chr1:226496213..226498416-chr1:226552775..226555323,2	MCF-7	breast:
4	chr1:226550494..226555291-chr1:226557365..226562090,4	MCF-7	breast:
5	chr1:226544539..226548869-chr1:226552185..226555884,5	K562	blood:

Variant related genes	Relation type
PARP1	TF binding region
ENSG00000143799	Chromatin interaction
ENSG00000183814	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11583604	1.00[ASN][1000 genomes]
rs11583736	1.00[ASN][1000 genomes]
rs11583805	1.00[ASN][1000 genomes]
rs11583820	1.00[AFR][1000 genomes]
rs11585469	1.00[ASN][1000 genomes]
rs11589277	1.00[ASN][1000 genomes]
rs1219670	1.00[ASN][1000 genomes]
rs1219672	1.00[ASN][1000 genomes]
rs1877159	1.00[ASN][1000 genomes]
rs4278344	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

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	chr1:226543000-226556600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:226543000-226556800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:226543000-226558400	Strong transcription	Primary hematopoietic stem cells	blood
5	chr1:226543000-226578400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:226543000-226582800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:226543000-226590800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:226543000-226590800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:226543000-226591400	Strong transcription	Primary T cells from cord blood	blood
10	chr1:226543200-226588600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:226543200-226588600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:226543400-226580400	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr1:226543400-226590200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:226543400-226591400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:226543600-226555200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:226543600-226590400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:226543600-226591400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:226544200-226556000	Strong transcription	Primary B cells from cord blood	blood
19	chr1:226544200-226590400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:226544400-226555600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr1:226544600-226580200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr1:226544600-226580400	Strong transcription	Fetal Stomach	stomach
23	chr1:226544600-226591800	Strong transcription	Dnd41	blood
24	chr1:226544800-226558000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:226544800-226563400	Strong transcription	Spleen	Spleen
26	chr1:226544800-226590800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:226545000-226580400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:226545000-226590800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:226545200-226558600	Strong transcription	Brain Angular Gyrus	brain
30	chr1:226545200-226560000	Strong transcription	Colon Smooth Muscle	Colon
31	chr1:226545200-226569800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:226545200-226580200	Strong transcription	Ovary	ovary
33	chr1:226545200-226580400	Strong transcription	Fetal Intestine Large	intestine
34	chr1:226545200-226581000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:226545200-226581200	Strong transcription	Adipose Nuclei	Adipose
36	chr1:226545200-226582600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr1:226545200-226582800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr1:226545400-226560600	Strong transcription	Brain Anterior Caudate	brain
39	chr1:226545400-226560800	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr1:226545400-226568000	Strong transcription	Liver	Liver
41	chr1:226545400-226580000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:226545400-226580200	Strong transcription	Thymus	Thymus
43	chr1:226545400-226580400	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr1:226545400-226580400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:226545400-226580400	Strong transcription	Rectal Smooth Muscle	rectum
46	chr1:226545400-226581400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:226545400-226584000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:226545400-226590600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:226545600-226580200	Strong transcription	Esophagus	oesophagus
50	chr1:226545600-226581400	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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