Variant report

Variant	rs2047446
Chromosome Location	chr1:214455609-214455610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214455071..214455827-chr5:68484614..68485240,2	Hela-S3	cervix:
2	chr1:214454828..214456756-chr1:214488349..214489973,2	MCF-7	breast:
3	chr1:214453197..214455713-chr1:214724274..214726472,2	MCF-7	breast:
4	chr1:214454710..214457549-chr7:26301869..26304423,2	MCF-7	breast:
5	chr1:214452237..214456498-chr1:214498464..214506870,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152104	Chromatin interaction
ENSG00000143499	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12563172	0.88[ASN][1000 genomes]
rs35874989	0.93[ASN][1000 genomes]
rs6679707	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682161	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684852	0.81[ASN][1000 genomes]
rs6688979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73090335	0.81[ASN][1000 genomes]
rs7519743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7522244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7538203	0.81[EUR][1000 genomes]
rs9308433	0.93[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	esv3366467	chr1:214453679-214455877	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214453200-214456000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr1:214453400-214455800	Active TSS	Brain Substantia Nigra	brain
3	chr1:214453800-214455800	Active TSS	Colon Smooth Muscle	Colon
4	chr1:214453800-214455800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr1:214453800-214456000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:214453800-214456200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:214453800-214456600	Active TSS	Left Ventricle	heart
8	chr1:214453800-214456600	Active TSS	Right Ventricle	heart
9	chr1:214454000-214455800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:214454000-214455800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:214454000-214455800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr1:214454000-214455800	Bivalent/Poised TSS	HepG2	liver
13	chr1:214454000-214456200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:214454200-214455800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:214455000-214455800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:214455000-214455800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr1:214455000-214455800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:214455000-214455800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr1:214455000-214455800	Flanking Active TSS	Liver	Liver
20	chr1:214455000-214455800	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr1:214455000-214455800	Flanking Active TSS	Fetal Thymus	thymus
22	chr1:214455000-214455800	Flanking Active TSS	HUVEC	blood vessel
23	chr1:214455000-214456000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr1:214455000-214456000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr1:214455000-214456000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr1:214455000-214456000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:214455000-214456200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr1:214455000-214456200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr1:214455000-214456200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr1:214455000-214456400	Flanking Active TSS	GM12878-XiMat	blood
31	chr1:214455000-214456600	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr1:214455200-214455800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr1:214455200-214455800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
34	chr1:214455200-214455800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr1:214455200-214455800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:214455200-214455800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:214455200-214455800	Flanking Active TSS	Fetal Lung	lung
38	chr1:214455200-214456200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:214455200-214456200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:214455200-214456200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr1:214455200-214456200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr1:214455200-214456400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr1:214455200-214456400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:214455200-214456400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr1:214455200-214456800	Enhancers	Spleen	Spleen
46	chr1:214455200-214457000	Flanking Active TSS	Dnd41	blood
47	chr1:214455400-214455800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:214455400-214455800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
49	chr1:214455400-214455800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
50	chr1:214455400-214455800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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