Variant report

Variant	rs17049972
Chromosome Location	chr4:120131909-120131910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr4:120131855-120132319	MCF10A-Er-Src	breast:	n/a	chr4:120132083-120132094 chr4:120132085-120132094 chr4:120132159-120132168 chr4:120132085-120132093 chr4:120132086-120132093 chr4:120132084-120132093
2	FOS	chr4:120131855-120132271	MCF10A-Er-Src	breast:	n/a	chr4:120132083-120132094 chr4:120132085-120132094 chr4:120132159-120132168 chr4:120132085-120132093 chr4:120132086-120132093 chr4:120132084-120132093
3	POLR2A	chr4:120131791-120132931	K562	blood:	n/a	n/a
4	STAT3	chr4:120131898-120132210	MCF10A-Er-Src	breast:	n/a	chr4:120132084-120132093 chr4:120132085-120132094
5	STAT3	chr4:120131905-120132217	MCF10A-Er-Src	breast:	n/a	chr4:120132084-120132093 chr4:120132085-120132094
6	FOS	chr4:120131862-120132294	MCF10A-Er-Src	breast:	n/a	chr4:120132083-120132094 chr4:120132085-120132094 chr4:120132159-120132168 chr4:120132085-120132093 chr4:120132086-120132093 chr4:120132084-120132093
7	FOS	chr4:120131907-120132326	MCF10A-Er-Src	breast:	n/a	chr4:120132083-120132094 chr4:120132085-120132094 chr4:120132159-120132168 chr4:120132085-120132093 chr4:120132086-120132093 chr4:120132084-120132093
8	FOS	chr4:120131824-120132524	HUVEC	blood vessel:	n/a	chr4:120132083-120132094 chr4:120132085-120132094 chr4:120132159-120132168 chr4:120132085-120132093 chr4:120132086-120132093 chr4:120132084-120132093
9	STAT3	chr4:120131890-120132216	MCF10A-Er-Src	breast:	n/a	chr4:120132084-120132093 chr4:120132085-120132094
10	CEBPB	chr4:120131894-120132180	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:120107053..120109251-chr4:120131734..120133629,2	MCF-7	breast:
2	chr4:120059391..120062207-chr4:120131058..120133617,2	MCF-7	breast:
3	chr4:120125730..120127541-chr4:120130330..120131994,2	MCF-7	breast:
4	chr4:120130951..120136158-chr4:120218006..120223072,8	K562	blood:
5	chr4:120131661..120133788-chr4:120986266..120989312,3	K562	blood:
6	chr4:119903589..119905538-chr4:120130770..120132703,2	MCF-7	breast:

Variant related genes	Relation type
USP53	TF binding region
ENSG00000164096	Chromatin interaction
ENSG00000250938	Chromatin interaction
ENSG00000164109	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17049982	1.00[AMR][1000 genomes]
rs35744921	1.00[AMR][1000 genomes]
rs61758375	1.00[AMR][1000 genomes]
rs6858660	1.00[AMR][1000 genomes]
rs9759816	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS 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 miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120101000-120132400	Weak transcription	Left Ventricle	heart
2	chr4:120117600-120133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:120125800-120132200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:120126200-120132200	Enhancers	NHDF-Ad	bronchial
5	chr4:120126400-120132200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:120126400-120132400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:120126400-120132400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:120126400-120132400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:120126400-120132400	Enhancers	HUVEC	blood vessel
10	chr4:120126400-120132600	Weak transcription	Right Atrium	heart
11	chr4:120127400-120132200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:120127400-120132400	Enhancers	NHLF	lung
13	chr4:120128000-120132800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:120128400-120132400	Weak transcription	Adipose Nuclei	Adipose
15	chr4:120128600-120132400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:120128600-120132400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:120128600-120132600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:120129000-120132800	Weak transcription	Fetal Heart	heart
19	chr4:120129200-120132400	Weak transcription	Fetal Lung	lung
20	chr4:120129400-120132200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:120129600-120132200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:120129600-120132200	Enhancers	HMEC	breast
23	chr4:120129600-120132800	Enhancers	Hela-S3	cervix
24	chr4:120129800-120132400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:120130000-120132600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr4:120130400-120132400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:120130600-120132800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:120130800-120132600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:120130800-120132800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:120131000-120132000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:120131000-120132400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr4:120131000-120132800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:120131200-120132000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:120131200-120132200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:120131200-120132200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:120131200-120132200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:120131200-120132200	Weak transcription	A549	lung
38	chr4:120131200-120132200	Weak transcription	K562	blood
39	chr4:120131200-120132400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:120131200-120132400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:120131200-120132400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:120131200-120132400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:120131200-120132400	Weak transcription	NH-A	brain
44	chr4:120131200-120132800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:120131200-120132800	Weak transcription	Stomach Mucosa	stomach
46	chr4:120131200-120133000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:120131400-120132800	Weak transcription	HSMMtube	muscle
48	chr4:120131600-120132600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:120131600-120132600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:120131800-120132200	Enhancers	HUES64 Cell Line	embryonic stem cell

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