Variant report

Variant	rs1230201
Chromosome Location	chr4:99980392-99980393
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99847865..99852032-chr4:99978729..99983924,6	K562	blood:
2	chr4:99968894..99970769-chr4:99978380..99981030,2	MCF-7	breast:

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1230170	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1230172	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1230173	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1230180	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1230183	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1230189	0.82[AFR][1000 genomes]
rs1230199	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1230204	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1237656	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12507078	0.87[YRI][hapmap]
rs12649136	0.87[YRI][hapmap]
rs2602892	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851307	0.87[ASN][1000 genomes]
rs4699734	0.87[YRI][hapmap]

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	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99947400-99982600	Weak transcription	Psoas Muscle	Psoas
2	chr4:99954000-99999200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:99955400-99980800	Weak transcription	HSMMtube	muscle
4	chr4:99956200-99995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:99959800-100000200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:99965000-99982000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:99965000-99982200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:99971000-99988800	Weak transcription	Fetal Brain Male	brain
9	chr4:99971800-99991600	Weak transcription	Brain Anterior Caudate	brain
10	chr4:99971800-99997600	Weak transcription	Spleen	Spleen
11	chr4:99972000-99982400	Weak transcription	Lung	lung
12	chr4:99973800-99981200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:99974000-99993000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:99974400-99982400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:99976000-99989800	Weak transcription	Fetal Brain Female	brain
16	chr4:99976400-99992800	Weak transcription	Aorta	Aorta
17	chr4:99977200-99994400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:99977400-99981000	Strong transcription	K562	blood
19	chr4:99977400-99991600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:99977400-99992800	Weak transcription	Brain Substantia Nigra	brain
21	chr4:99977400-99994800	Weak transcription	Right Atrium	heart
22	chr4:99977400-99996600	Weak transcription	Brain Angular Gyrus	brain
23	chr4:99977400-99996800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:99977400-99997000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:99977600-100008400	Weak transcription	Stomach Mucosa	stomach
26	chr4:99977800-100009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:99978000-99983800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:99978000-99986400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:99978000-99986400	Strong transcription	Dnd41	blood
30	chr4:99978000-100007800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:99978200-99981000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:99978200-99981000	Strong transcription	HepG2	liver
33	chr4:99978200-99981400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr4:99978200-99983600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:99978200-99983600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:99978200-99983600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:99978200-99984000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr4:99978200-99986400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:99978200-99986400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:99978400-99980400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:99978400-99980600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:99978400-99980600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr4:99978400-99981000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr4:99978400-99983400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr4:99978400-99983600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:99978400-99983600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr4:99978400-99983800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:99978600-99980400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr4:99978600-99980600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr4:99978600-99980600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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