Variant report

Variant	rs4975314
Chromosome Location	chr4:143468398-143468399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:143390493..143399629-chr4:143464669..143473703,24	MCF-7	breast:
2	chr4:143463931..143465579-chr4:143468036..143470044,2	MCF-7	breast:
3	chr4:143467061..143469661-chr4:143478956..143481210,2	MCF-7	breast:
4	chr4:143459017..143460718-chr4:143467557..143470331,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10013367	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11100750	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1160379	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12505079	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12645394	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13144094	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1425519	0.80[ASN][1000 genomes]
rs1476122	0.86[ASN][1000 genomes]
rs16998558	0.87[ASN][1000 genomes]
rs16998560	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17016344	0.87[ASN][1000 genomes]
rs17016354	0.84[ASN][1000 genomes]
rs17016379	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1963849	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1974940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042643	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34007357	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34223306	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4246729	0.87[ASN][1000 genomes]
rs4524461	0.80[ASN][1000 genomes]
rs4975312	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4975313	0.87[ASN][1000 genomes]
rs57201046	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57260347	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58899027	0.81[ASN][1000 genomes]
rs60257926	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6537110	0.84[ASN][1000 genomes]
rs67078907	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67311549	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6814775	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6826090	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655599	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7664281	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7671198	0.87[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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv461660	chr4:143437219-143538179	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv595605	chr4:143437219-143538179	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143444800-143468400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:143456800-143468400	Weak transcription	HMEC	breast
3	chr4:143461400-143471000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:143463000-143472200	Weak transcription	Aorta	Aorta
5	chr4:143463200-143470200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:143463400-143468600	Weak transcription	Left Ventricle	heart
7	chr4:143465200-143470600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:143465600-143470200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:143465600-143470200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:143465600-143470400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:143465600-143470800	Weak transcription	Stomach Mucosa	stomach
12	chr4:143465600-143472800	Weak transcription	Fetal Lung	lung
13	chr4:143465800-143470800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:143466000-143469000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:143466000-143470400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:143466000-143470800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:143466000-143471200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:143466200-143470600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:143466600-143468600	Weak transcription	Fetal Intestine Small	intestine
20	chr4:143466600-143471000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:143466800-143470200	Weak transcription	Fetal Intestine Large	intestine
22	chr4:143467800-143470400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:143468200-143470200	Enhancers	NHEK	skin
24	chr4:143468200-143470600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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