Variant report

Variant	rs73072131
Chromosome Location	chr4:505665-505666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:493140..494873-chr4:503528..506299,2	MCF-7	breast:
2	chr4:503820..506126-chr4:506397..509861,3	K562	blood:
3	chr4:499866..502567-chr4:503019..505864,2	MCF-7	breast:
4	chr4:493744..499975-chr4:504792..509084,10	K562	blood:
5	chr4:491400..498728-chr4:498838..507098,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182903	Chromatin interaction
ENSG00000174227	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34916638	0.85[AMR][1000 genomes]
rs73072152	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1001899	chr4:68809-517736	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv1010829	chr4:147570-547070	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv536970	chr4:147570-547070	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:493600-520000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:494200-506200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:494400-521400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:494400-531000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:494400-533200	Strong transcription	Placenta	Placenta
6	chr4:494400-534600	Weak transcription	Fetal Heart	heart
7	chr4:494600-505800	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:494600-507200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:494600-525600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:494600-532000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:494600-533000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:494600-533200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:494600-533200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:494800-513200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:494800-513400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:494800-513600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr4:495000-505800	Strong transcription	Fetal Intestine Large	intestine
18	chr4:495000-511600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr4:495000-533000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:495200-507800	Strong transcription	Fetal Intestine Small	intestine
21	chr4:495200-533000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:495200-534000	Strong transcription	Fetal Stomach	stomach
23	chr4:495400-505800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:495400-513600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:496200-507200	Weak transcription	Psoas Muscle	Psoas
26	chr4:496400-533000	Strong transcription	Fetal Brain Female	brain
27	chr4:496800-532000	Strong transcription	Dnd41	blood
28	chr4:498400-505800	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:498400-513800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:498600-506000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:498800-513000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:499400-506000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:499400-513600	Strong transcription	Brain Germinal Matrix	brain
34	chr4:499600-505800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:499600-526600	Strong transcription	Primary B cells from cord blood	blood
36	chr4:501400-505800	ZNF genes & repeats	GM12878-XiMat	blood
37	chr4:502200-507200	Weak transcription	HSMM	muscle
38	chr4:502200-507400	Weak transcription	NHDF-Ad	bronchial
39	chr4:502200-507600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:502200-507800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:502400-507400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr4:502600-509000	Weak transcription	Fetal Kidney	kidney
43	chr4:502800-506600	Weak transcription	NHEK	skin
44	chr4:502800-508200	Weak transcription	Hela-S3	cervix
45	chr4:502800-512600	Strong transcription	Fetal Thymus	thymus
46	chr4:503000-506200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:503000-507400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:503000-511200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr4:503000-530600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:503000-531600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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