Variant report

Variant	rs67517620
Chromosome Location	chr4:99829966-99829967
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99822851..99824917-chr4:99827424..99830056,2	K562	blood:
2	chr4:99827732..99830056-chr4:99838507..99841404,2	K562	blood:
3	chr4:99821499..99832064-chr4:99845860..99851281,12	MCF-7	breast:
4	chr4:99809768..99812209-chr4:99828857..99830577,2	K562	blood:
5	chr4:99828711..99830237-chr4:99846843..99849645,2	MCF-7	breast:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10516438	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12507214	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12649066	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12651447	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2028685	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2028686	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2028687	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3749547	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55807127	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56669998	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66467917	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66761677	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66809909	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72692608	0.80[EUR][1000 genomes]
rs72692611	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7654109	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99802800-99830200	Weak transcription	Ovary	ovary
2	chr4:99802800-99849000	Weak transcription	Aorta	Aorta
3	chr4:99804400-99848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:99804600-99838400	Weak transcription	Esophagus	oesophagus
5	chr4:99805200-99832000	Weak transcription	Spleen	Spleen
6	chr4:99807200-99849000	Weak transcription	Colonic Mucosa	Colon
7	chr4:99807800-99832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:99808000-99841400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:99808600-99830600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:99808600-99849000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:99815800-99848200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:99816600-99831200	Weak transcription	Brain Anterior Caudate	brain
13	chr4:99816600-99847200	Weak transcription	Fetal Brain Male	brain
14	chr4:99817000-99830800	Weak transcription	Brain Germinal Matrix	brain
15	chr4:99819000-99831000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:99822800-99830000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:99822800-99830600	Weak transcription	Left Ventricle	heart
18	chr4:99822800-99831800	Weak transcription	Fetal Stomach	stomach
19	chr4:99823000-99830000	Weak transcription	Liver	Liver
20	chr4:99823000-99835600	Weak transcription	Adipose Nuclei	Adipose
21	chr4:99823000-99836000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:99823000-99841600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:99823000-99842600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:99823000-99845600	Weak transcription	Hela-S3	cervix
25	chr4:99823000-99847200	Weak transcription	Thymus	Thymus
26	chr4:99823000-99848800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:99823000-99849000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:99823000-99849200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:99823200-99830000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:99823200-99830200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:99823200-99830600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:99823200-99830800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:99823200-99831000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:99823200-99831600	Weak transcription	Fetal Lung	lung
35	chr4:99823200-99839600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:99823200-99847800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:99823200-99848000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:99823200-99848600	Weak transcription	Fetal Muscle Leg	muscle
39	chr4:99823200-99848800	Weak transcription	Placenta	Placenta
40	chr4:99823400-99830000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:99823400-99830600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:99823800-99830400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:99824200-99830400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr4:99824200-99846800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr4:99825200-99832200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr4:99825200-99832400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr4:99825200-99841400	Weak transcription	Psoas Muscle	Psoas
48	chr4:99825400-99830800	Weak transcription	Right Atrium	heart
49	chr4:99825400-99831200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:99825600-99830600	Weak transcription	Gastric	stomach

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