Variant report

Variant	rs3813621
Chromosome Location	chr1:161145125-161145126
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	POLR2A	chr1:161144797-161145149	K562	blood:	n/a	n/a
2	POLR2A	chr1:161145028-161145207	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:161144654..161146766-chr1:161192298..161194395,2	MCF-7	breast:
2	chr1:161135373..161143326-chr1:161144272..161149580,16	MCF-7	breast:
3	chr1:161144879..161147877-chr1:161169961..161172564,2	K562	blood:
4	chr1:161143639..161145317-chr1:161145400..161147302,2	MCF-7	breast:

Variant related genes	Relation type
B4GALT3	TF binding region
ENSG00000158864	Chromatin interaction
ENSG00000158850	Chromatin interaction
ENSG00000158874	Chromatin interaction
ENSG00000143224	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11583589	1.00[ASN][1000 genomes]
rs12063241	0.90[EUR][1000 genomes]
rs2301288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59486558	0.95[EUR][1000 genomes]
rs61495795	1.00[ASN][1000 genomes]
rs7550614	0.90[EUR][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	chr1:161137600-161145600	Strong transcription	Fetal Intestine Small	intestine
3	chr1:161137800-161145600	Weak transcription	Fetal Brain Male	brain
4	chr1:161137800-161145600	Strong transcription	A549	lung
5	chr1:161138000-161145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:161138000-161145600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:161138000-161145800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:161138000-161145800	Strong transcription	Brain Hippocampus Middle	brain
9	chr1:161138200-161145400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:161138200-161145400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:161138200-161145600	Strong transcription	Primary hematopoietic stem cells	blood
12	chr1:161138200-161145600	Strong transcription	Fetal Brain Female	brain
13	chr1:161138200-161145600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:161138200-161145800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:161138200-161145800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:161138200-161145800	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr1:161138400-161145600	Strong transcription	Placenta	Placenta
18	chr1:161138400-161145800	Strong transcription	Brain Cingulate Gyrus	brain
19	chr1:161138400-161145800	Strong transcription	Brain Germinal Matrix	brain
20	chr1:161138600-161145600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:161138600-161145600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:161138600-161145600	Strong transcription	Fetal Thymus	thymus
23	chr1:161138600-161145800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:161138600-161145800	Strong transcription	Fetal Intestine Large	intestine
25	chr1:161138600-161145800	Strong transcription	HepG2	liver
26	chr1:161138800-161145200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:161138800-161145400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:161138800-161145400	Strong transcription	Lung	lung
29	chr1:161138800-161145400	Strong transcription	Thymus	Thymus
30	chr1:161138800-161145600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:161138800-161145600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:161138800-161145600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:161138800-161145600	Strong transcription	Aorta	Aorta
34	chr1:161138800-161145800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:161138800-161145800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:161138800-161145800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:161138800-161145800	Strong transcription	Brain Substantia Nigra	brain
38	chr1:161139000-161145200	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr1:161139000-161145400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:161139000-161145400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:161139000-161145800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:161139000-161146000	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr1:161139600-161145600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:161139600-161145800	Strong transcription	NHEK	skin
45	chr1:161140400-161146200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:161141400-161146400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:161142400-161145600	Strong transcription	Fetal Kidney	kidney
48	chr1:161143200-161145200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:161143200-161145800	Strong transcription	K562	blood
50	chr1:161143400-161145200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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