Variant report

Variant	rs4521327
Chromosome Location	chr4:152995075-152995076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152994631..152998650-chr4:152999260..153001615,3	K562	blood:
2	chr4:152994994..152996876-chr4:152998778..153001469,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10029800	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11724208	0.90[ASN][1000 genomes]
rs11936071	0.86[AMR][1000 genomes]
rs13102624	0.86[ASN][1000 genomes]
rs13103011	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059492	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696313	0.80[AMR][1000 genomes]
rs6823781	0.89[ASN][1000 genomes]
rs9996858	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3408353	chr4:152991402-152996100	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152983800-153000800	Enhancers	Fetal Thymus	thymus
2	chr4:152985200-152996200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:152985200-153000000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:152986800-152998000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:152989400-153000400	Enhancers	Thymus	Thymus
6	chr4:152990400-152995200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:152990400-152997600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:152990400-152998600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:152990400-153000000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:152990800-152996600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:152992200-152995400	Weak transcription	Primary T cells from cord blood	blood
12	chr4:152992800-152995200	Enhancers	Left Ventricle	heart
13	chr4:152992800-152996200	Enhancers	Fetal Heart	heart
14	chr4:152993000-152996800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr4:152993200-152995200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:152993200-152995200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:152993400-152995200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:152993600-152995200	Enhancers	Right Atrium	heart
19	chr4:152994000-152995200	Enhancers	Fetal Muscle Trunk	muscle
20	chr4:152994000-152995400	Weak transcription	Right Ventricle	heart
21	chr4:152994000-152996400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:152994200-152995200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:152994200-152995200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:152994200-152995600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:152994200-152996200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:152994200-152996200	Weak transcription	Dnd41	blood
27	chr4:152994400-152995200	Enhancers	Lung	lung
28	chr4:152994400-152995600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:152994600-152995200	Enhancers	Fetal Muscle Leg	muscle
30	chr4:152994600-152998800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:152994800-152995600	Enhancers	NHEK	skin
32	chr4:152995000-152995200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:152995000-152995200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:152995000-152995200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:152995000-152995200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:152995000-152995200	Enhancers	Brain Anterior Caudate	brain
37	chr4:152995000-152995400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr4:152995000-152995400	Enhancers	Fetal Brain Male	brain
39	chr4:152995000-152995400	Enhancers	Fetal Brain Female	brain
40	chr4:152995000-152995600	Enhancers	Fetal Lung	lung
41	chr4:152995000-152995800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr4:152995000-152997600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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