Variant report

Variant	rs74124650
Chromosome Location	chr1:161142595-161142596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:161142280-161143499	IMR90	lung:	n/a	n/a
2	POLR2A	chr1:161142307-161143514	K562	blood:	n/a	n/a
3	POLR2A	chr1:161142579-161142671	HepG2	liver:	n/a	n/a
4	MXI1	chr1:161142246-161143640	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161135753..161138931-chr1:161140276..161143695,4	MCF-7	breast:
2	chr1:161141524..161143840-chr1:161170719..161172655,2	MCF-7	breast:
3	chr1:161140934..161143021-chr1:161168677..161170502,2	MCF-7	breast:
4	chr1:161135373..161143326-chr1:161144272..161149580,16	MCF-7	breast:
5	chr1:161141471..161144322-chr1:161168874..161171385,2	K562	blood:

No data

Variant related genes	Relation type
B4GALT3	TF binding region
ENSG00000158850	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000158864	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs34887199	1.00[AMR][1000 genomes]
rs55675252	1.00[AFR][1000 genomes]
rs55880062	1.00[AMR][1000 genomes]
rs56758346	1.00[AMR][1000 genomes]
rs57560345	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61642842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124643	0.83[AFR][1000 genomes]
rs74124646	0.83[AFR][1000 genomes]
rs74124647	1.00[AFR][1000 genomes]
rs74124652	1.00[AMR][1000 genomes]
rs74124653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124672	1.00[AMR][1000 genomes]
rs74124691	1.00[AMR][1000 genomes]
rs74124697	1.00[AMR][1000 genomes]
rs74127620	1.00[AMR][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161137200-161146400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:161137400-161143200	Weak transcription	Right Atrium	heart
3	chr1:161137600-161145600	Strong transcription	Fetal Intestine Small	intestine
4	chr1:161137800-161142600	Strong transcription	Fetal Stomach	stomach
5	chr1:161137800-161142800	Strong transcription	Fetal Lung	lung
6	chr1:161137800-161143000	Strong transcription	Spleen	Spleen
7	chr1:161137800-161145600	Weak transcription	Fetal Brain Male	brain
8	chr1:161137800-161145600	Strong transcription	A549	lung
9	chr1:161138000-161142600	Strong transcription	Colon Smooth Muscle	Colon
10	chr1:161138000-161142800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:161138000-161143000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr1:161138000-161145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:161138000-161145600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:161138000-161145800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:161138000-161145800	Strong transcription	Brain Hippocampus Middle	brain
16	chr1:161138200-161143400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:161138200-161144000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:161138200-161144800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:161138200-161145400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:161138200-161145400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:161138200-161145600	Strong transcription	Primary hematopoietic stem cells	blood
22	chr1:161138200-161145600	Strong transcription	Fetal Brain Female	brain
23	chr1:161138200-161145600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:161138200-161145800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:161138200-161145800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:161138200-161145800	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr1:161138400-161145600	Strong transcription	Placenta	Placenta
28	chr1:161138400-161145800	Strong transcription	Brain Cingulate Gyrus	brain
29	chr1:161138400-161145800	Strong transcription	Brain Germinal Matrix	brain
30	chr1:161138600-161142800	Strong transcription	Brain Anterior Caudate	brain
31	chr1:161138600-161142800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr1:161138600-161143400	Strong transcription	Gastric	stomach
33	chr1:161138600-161144200	Strong transcription	Primary T cells from cord blood	blood
34	chr1:161138600-161145000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:161138600-161145600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:161138600-161145600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:161138600-161145600	Strong transcription	Fetal Thymus	thymus
38	chr1:161138600-161145800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:161138600-161145800	Strong transcription	Fetal Intestine Large	intestine
40	chr1:161138600-161145800	Strong transcription	HepG2	liver
41	chr1:161138800-161142800	Strong transcription	Liver	Liver
42	chr1:161138800-161143800	Strong transcription	Primary B cells from cord blood	blood
43	chr1:161138800-161144600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:161138800-161144800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:161138800-161144800	Strong transcription	Dnd41	blood
46	chr1:161138800-161145000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr1:161138800-161145000	Strong transcription	Ovary	ovary
48	chr1:161138800-161145200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:161138800-161145400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:161138800-161145400	Strong transcription	Lung	lung

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