Variant report

Variant	rs62323206
Chromosome Location	chr4:99832445-99832446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99831130..99833750-chr4:99845211..99847015,2	MCF-7	breast:
2	chr4:99832216..99838344-chr4:99849441..99852575,6	MCF-7	breast:
3	chr4:99830941..99833130-chr4:99915425..99918294,2	K562	blood:

Variant related genes	Relation type
ENSG00000151247	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000263923	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1154412	1.00[ASN][1000 genomes]
rs11722494	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727079	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727086	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731092	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735758	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736580	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13107184	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13107892	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13110878	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115072	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115688	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13124855	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127259	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130454	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133934	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13832	1.00[ASN][1000 genomes]
rs17511498	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17570252	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17583053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992569	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004994	1.00[ASN][1000 genomes]
rs2230574	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018048	1.00[ASN][1000 genomes]
rs34073334	0.81[AMR][1000 genomes]
rs34116542	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34164768	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34445885	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34552530	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34849916	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35019647	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35360485	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35619083	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35885444	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36061550	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699369	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699689	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699692	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323189	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323190	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67650226	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692635	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7688221	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688461	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896992	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv879655	chr4:99783733-99843113	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99802800-99849000	Weak transcription	Aorta	Aorta
2	chr4:99804400-99848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:99804600-99838400	Weak transcription	Esophagus	oesophagus
4	chr4:99807200-99849000	Weak transcription	Colonic Mucosa	Colon
5	chr4:99808000-99841400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:99808600-99849000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:99815800-99848200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:99816600-99847200	Weak transcription	Fetal Brain Male	brain
9	chr4:99823000-99835600	Weak transcription	Adipose Nuclei	Adipose
10	chr4:99823000-99836000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:99823000-99841600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:99823000-99842600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:99823000-99845600	Weak transcription	Hela-S3	cervix
14	chr4:99823000-99847200	Weak transcription	Thymus	Thymus
15	chr4:99823000-99848800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:99823000-99849000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:99823000-99849200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:99823200-99839600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:99823200-99847800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:99823200-99848000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:99823200-99848600	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:99823200-99848800	Weak transcription	Placenta	Placenta
23	chr4:99824200-99846800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:99825200-99841400	Weak transcription	Psoas Muscle	Psoas
25	chr4:99825800-99837200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:99827000-99841000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:99827000-99848200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:99827200-99846000	Weak transcription	Fetal Intestine Large	intestine
29	chr4:99827400-99837800	Weak transcription	HepG2	liver
30	chr4:99827600-99838600	Weak transcription	HSMM	muscle
31	chr4:99827600-99846400	Weak transcription	NH-A	brain
32	chr4:99827600-99846600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:99828000-99841200	Weak transcription	Osteobl	bone
34	chr4:99829000-99837400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr4:99829000-99837800	Weak transcription	Fetal Heart	heart
36	chr4:99829000-99838800	Weak transcription	Right Ventricle	heart
37	chr4:99829200-99833000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:99829600-99846800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr4:99830000-99837000	Weak transcription	Primary B cells from cord blood	blood
40	chr4:99830000-99848200	Weak transcription	Fetal Kidney	kidney
41	chr4:99830200-99846600	Weak transcription	A549	lung
42	chr4:99830400-99838000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr4:99830400-99841400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:99830600-99833000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:99830800-99834800	Enhancers	Primary T cells fromperipheralblood	blood
46	chr4:99830800-99835600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:99831000-99833400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:99831000-99835600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr4:99831000-99835800	Weak transcription	Small Intestine	intestine
50	chr4:99831000-99837800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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