Variant report

Variant	rs680508
Chromosome Location	chr3:101579158-101579159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101578560..101581367-chr3:101581582..101584518,2	K562	blood:
2	chr3:101532469..101535630-chr3:101577445..101579384,3	MCF-7	breast:
3	chr3:101576577..101579406-chr3:101942461..101944308,2	MCF-7	breast:
4	chr3:101577239..101580060-chr3:101581582..101584089,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs14134	0.98[ASN][1000 genomes]
rs2925332	0.82[ASN][1000 genomes]
rs2925333	0.80[ASN][1000 genomes]
rs2926539	0.82[ASN][1000 genomes]
rs2926540	0.82[ASN][1000 genomes]
rs587555	0.93[ASN][1000 genomes]
rs592332	0.82[ASN][1000 genomes]
rs592779	0.82[ASN][1000 genomes]
rs599849	0.98[ASN][1000 genomes]
rs601225	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs618901	0.84[ASN][1000 genomes]
rs622122	0.98[ASN][1000 genomes]
rs654219	0.82[ASN][1000 genomes]
rs665374	0.82[ASN][1000 genomes]
rs677011	0.92[ASN][1000 genomes]
rs678354	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs681573	0.82[ASN][1000 genomes]
rs688058	0.82[ASN][1000 genomes]
rs694293	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv3351469	chr3:101511702-101866448	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101570000-101579200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:101570400-101598400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:101570800-101579400	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:101570800-101580600	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr3:101570800-101580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:101570800-101580800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:101570800-101580800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:101571000-101579400	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr3:101571000-101579400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:101571000-101579400	Strong transcription	Dnd41	blood
11	chr3:101571000-101580000	Strong transcription	Fetal Lung	lung
12	chr3:101571000-101580600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:101571000-101581400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:101571200-101579400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:101571200-101579400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:101571200-101579400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:101571200-101579400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr3:101571200-101579400	Strong transcription	Fetal Muscle Leg	muscle
19	chr3:101571200-101580600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:101571200-101580600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:101571200-101581000	Strong transcription	Colon Smooth Muscle	Colon
22	chr3:101571200-101582000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:101571400-101579600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:101571400-101580800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:101571400-101581400	Strong transcription	NHLF	lung
26	chr3:101571600-101579200	Strong transcription	Brain Cingulate Gyrus	brain
27	chr3:101571600-101580600	Strong transcription	Fetal Thymus	thymus
28	chr3:101571800-101579400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:101571800-101579400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:101572200-101579200	Strong transcription	K562	blood
31	chr3:101572200-101581400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:101572600-101580400	Strong transcription	HUVEC	blood vessel
33	chr3:101572600-101581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:101572600-101581200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:101572600-101581400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:101572600-101581800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:101572600-101583400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr3:101572800-101580800	Strong transcription	HMEC	breast
39	chr3:101573600-101579400	Strong transcription	Aorta	Aorta
40	chr3:101574200-101579600	Strong transcription	Rectal Smooth Muscle	rectum
41	chr3:101574400-101580800	Strong transcription	A549	lung
42	chr3:101574400-101582400	Weak transcription	Fetal Heart	heart
43	chr3:101574800-101580400	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr3:101575400-101579400	Strong transcription	Colonic Mucosa	Colon
45	chr3:101575800-101579400	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:101575800-101581400	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr3:101576000-101579400	Strong transcription	Small Intestine	intestine
48	chr3:101576200-101579400	Strong transcription	Brain Hippocampus Middle	brain
49	chr3:101576200-101581000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr3:101576400-101579400	Strong transcription	Lung	lung

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