Variant report

Variant	rs9992872
Chromosome Location	chr4:48728499-48728500
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	chr4:48720217..48721926-chr4:48727442..48730398,2	MCF-7	breast:
2	chr4:48725723..48728772-chr4:48781699..48784072,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075539	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13128107	0.96[ASN][1000 genomes]
rs28473096	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1013914	chr4:48652784-48728934	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv537090	chr4:48652784-48728934	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1792683	chr4:48686817-48764009	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv1795181	chr4:48686817-48764009	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv1793455	chr4:48686817-48859142	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	esv1792281	chr4:48719424-48764009	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv1794245	chr4:48719424-48764009	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv1794757	chr4:48719424-48764009	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48700200-48730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:48701000-48729600	Weak transcription	Aorta	Aorta
4	chr4:48705600-48728800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:48712800-48731000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:48720000-48737000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:48720200-48730000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:48721000-48729400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr4:48721200-48730800	Weak transcription	Fetal Intestine Small	intestine
10	chr4:48721400-48729400	Weak transcription	Right Atrium	heart
11	chr4:48721400-48729600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:48724000-48731800	Enhancers	Brain Hippocampus Middle	brain
13	chr4:48724200-48729000	Enhancers	Brain Angular Gyrus	brain
14	chr4:48724400-48732800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr4:48724600-48728800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr4:48724800-48728600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:48724800-48731000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:48725400-48729400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:48725400-48731200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:48725600-48728600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:48725600-48730800	Weak transcription	Gastric	stomach
22	chr4:48725600-48731200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:48725800-48729200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:48725800-48729400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:48725800-48729600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:48725800-48729800	Weak transcription	Dnd41	blood
27	chr4:48726200-48728800	Enhancers	Brain Anterior Caudate	brain
28	chr4:48726200-48729000	Enhancers	Psoas Muscle	Psoas
29	chr4:48726400-48728600	Enhancers	Ovary	ovary
30	chr4:48726400-48730800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr4:48726400-48730800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr4:48727000-48729200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:48727200-48728800	Enhancers	Pancreas	Pancrea
34	chr4:48727200-48728800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr4:48727200-48730000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:48727200-48732200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr4:48727400-48731600	Enhancers	Brain Substantia Nigra	brain
38	chr4:48727400-48732400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:48727600-48728600	Enhancers	Small Intestine	intestine
40	chr4:48727600-48729200	Enhancers	NHDF-Ad	bronchial
41	chr4:48727600-48730200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:48727600-48730200	Enhancers	HUVEC	blood vessel
43	chr4:48727600-48733600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr4:48727800-48728600	Weak transcription	Placenta	Placenta
45	chr4:48727800-48728600	Weak transcription	Left Ventricle	heart
46	chr4:48727800-48728800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:48727800-48729000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:48727800-48729400	Enhancers	Brain Cingulate Gyrus	brain
49	chr4:48727800-48730200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:48727800-48730400	Enhancers	HUES64 Cell Line	embryonic stem cell

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