Variant report

Variant	rs57331876
Chromosome Location	chr7:14025161-14025162
allele	C/T
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	ARID3A	chr7:14024325-14025263	K562	blood:	n/a	n/a
2	UBTF	chr7:14024896-14025281	K562	blood:	n/a	n/a
3	POLR2A	chr7:14024721-14033114	PFSK-1	brain:	n/a	n/a
4	EP300	chr7:14024899-14025397	K562	blood:	n/a	n/a
5	POLR2A	chr7:14025139-14025204	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ETV1	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs6945520	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6963305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278732	0.81[AFR][1000 genomes]
rs73278753	0.83[AFR][1000 genomes]
rs73278760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7806055	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv887700	chr7:13948517-14042702	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv887702	chr7:13995209-14027557	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv606279	chr7:13995209-14027991	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv887703	chr7:13997159-14027557	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv887704	chr7:13997159-14029739	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1030645	chr7:14015533-14078153	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv538739	chr7:14015533-14078153	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14010400-14027800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:14012800-14027600	Weak transcription	Fetal Stomach	stomach
3	chr7:14013000-14027600	Weak transcription	Liver	Liver
4	chr7:14013000-14027800	Weak transcription	Aorta	Aorta
5	chr7:14015000-14027600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:14016600-14025800	Weak transcription	Left Ventricle	heart
7	chr7:14019600-14025800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:14019600-14027800	Weak transcription	Psoas Muscle	Psoas
9	chr7:14020200-14025800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:14020400-14025800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:14021000-14027600	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:14021000-14027800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:14021200-14025800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:14021200-14027800	Weak transcription	HSMMtube	muscle
15	chr7:14021400-14027000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:14021600-14027400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:14021800-14025400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:14021800-14025800	Weak transcription	HUVEC	blood vessel
19	chr7:14021800-14027400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:14021800-14027800	Weak transcription	NHEK	skin
21	chr7:14022000-14026000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:14022800-14025800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:14022800-14027600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:14022800-14032000	Active TSS	K562	blood
25	chr7:14022800-14032200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr7:14023000-14029800	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr7:14023000-14029800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:14023400-14027200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:14023600-14025400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:14023600-14027200	Weak transcription	Osteobl	bone
31	chr7:14023800-14026400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr7:14023800-14032200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr7:14023800-14032400	Active TSS	Right Atrium	heart
34	chr7:14024000-14025400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr7:14024000-14026000	Active TSS	NHLF	lung
36	chr7:14024000-14027600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr7:14024200-14025600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr7:14024200-14025600	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr7:14024400-14025800	Active TSS	H1 Cell Line	embryonic stem cell
40	chr7:14024600-14025800	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr7:14024600-14026000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr7:14024600-14026000	Active TSS	HMEC	breast
43	chr7:14024600-14031600	Active TSS	Fetal Heart	heart
44	chr7:14024800-14025200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:14024800-14025200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:14024800-14026000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:14024800-14026200	Active TSS	Fetal Kidney	kidney
48	chr7:14024800-14026400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:14024800-14026400	Active TSS	Brain Anterior Caudate	brain
50	chr7:14024800-14028200	Active TSS	Fetal Brain Female	brain

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