Variant report

Variant	rs17787621
Chromosome Location	chr3:141052830-141052831
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141052203..141054827-chr3:141086733..141089265,2	K562	blood:
2	chr3:141052611..141055656-chr3:141065180..141068176,3	K562	blood:
3	chr3:141052611..141054382-chr3:141065464..141067942,2	K562	blood:
4	chr3:141052445..141054291-chr3:141054574..141056796,2	MCF-7	breast:
5	chr3:141051493..141053770-chr3:141054601..141056565,2	K562	blood:
6	chr3:141046937..141049134-chr3:141051333..141055060,4	K562	blood:
7	chr3:141050917..141052882-chr3:141133782..141136338,2	K562	blood:
8	chr3:141051493..141053638-chr3:141053830..141056565,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1983234	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4132036	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56054141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771916	1.00[ASN][1000 genomes]
rs6777886	1.00[ASN][1000 genomes]
rs6795197	1.00[ASN][1000 genomes]
rs6795377	1.00[ASN][1000 genomes]
rs7636469	1.00[ASN][1000 genomes]
rs9843461	1.00[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	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv460871	chr3:141027614-141074962	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv591893	chr3:141027614-141074962	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3365800	chr3:141050562-141054060	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141046000-141053800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:141046200-141053400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:141046200-141055800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:141046400-141055800	Genic enhancers	Fetal Intestine Small	intestine
5	chr3:141047000-141055800	Genic enhancers	Fetal Intestine Large	intestine
6	chr3:141047600-141054200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:141049000-141053200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:141049000-141056600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:141049200-141055000	Enhancers	GM12878-XiMat	blood
10	chr3:141049200-141057000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:141049400-141053200	Enhancers	NH-A	brain
12	chr3:141049400-141053400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:141049400-141056800	Enhancers	NHLF	lung
14	chr3:141049600-141053200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:141050000-141053000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:141050200-141053000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr3:141050600-141053600	Enhancers	K562	blood
18	chr3:141050600-141057000	Enhancers	NHDF-Ad	bronchial
19	chr3:141050800-141055800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:141051000-141053000	Enhancers	HSMM	muscle
21	chr3:141051000-141055600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:141051000-141055600	Weak transcription	NHEK	skin
23	chr3:141051200-141054800	Weak transcription	HMEC	breast
24	chr3:141051200-141055600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:141051400-141053400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:141052000-141053400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:141052000-141054000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:141052200-141055400	Weak transcription	HUVEC	blood vessel
29	chr3:141052200-141056400	Enhancers	A549	lung
30	chr3:141052400-141053600	Enhancers	Stomach Smooth Muscle	stomach
31	chr3:141052400-141053800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:141052400-141054400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:141052400-141056000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:141052400-141056000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr3:141052600-141053000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:141052600-141053000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr3:141052600-141053400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:141052600-141053600	Weak transcription	Left Ventricle	heart
39	chr3:141052600-141053600	Weak transcription	Right Ventricle	heart
40	chr3:141052600-141055600	Weak transcription	Small Intestine	intestine
41	chr3:141052600-141056000	Weak transcription	Colonic Mucosa	Colon
42	chr3:141052600-141056000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr3:141052600-141056600	Enhancers	Osteobl	bone
44	chr3:141052800-141053200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:141052800-141053400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:141052800-141054200	Weak transcription	Hela-S3	cervix
47	chr3:141052800-141054400	Weak transcription	HSMMtube	muscle

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