Variant report

Variant	rs13068397
Chromosome Location	chr3:142294425-142294426
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142277765..142280568-chr3:142293592..142296429,2	K562	blood:
2	chr3:142293878..142296347-chr3:142313547..142315332,2	K562	blood:
3	chr3:142294183..142301262-chr3:142311308..142318922,13	MCF-7	breast:
4	chr3:142166785..142168872-chr3:142292805..142295573,2	MCF-7	breast:
5	chr3:142223658..142226531-chr3:142293631..142295358,2	K562	blood:

Variant related genes	Relation type
ENSG00000175054	Chromatin interaction
ENSG00000120756	Chromatin interaction
ENSG00000114127	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10935463	0.80[EUR][1000 genomes]
rs1129391	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11708470	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11715514	0.82[EUR][1000 genomes]
rs11718899	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11916455	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11923612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12629001	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12629713	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12634255	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12638158	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12639363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13063075	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13065800	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13066441	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13070239	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13072346	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13072355	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13075259	0.80[EUR][1000 genomes]
rs13085247	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13085261	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13089219	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13092234	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13092593	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13093304	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13099184	0.80[EUR][1000 genomes]
rs2227929	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2227931	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3923464	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4256152	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4558780	0.83[EUR][1000 genomes]
rs4582075	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57299906	0.86[ASN][1000 genomes]
rs6440085	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6776402	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7432464	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7636909	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7641914	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers 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	51 gene(s)	inside rSNPs	diseases
2	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv591919	chr3:142219542-142308070	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142231600-142295800	Weak transcription	Small Intestine	intestine
2	chr3:142244400-142295600	Weak transcription	Fetal Heart	heart
3	chr3:142253800-142296400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:142272600-142296200	Weak transcription	Brain Angular Gyrus	brain
5	chr3:142272600-142296200	Weak transcription	Psoas Muscle	Psoas
6	chr3:142274800-142296200	Weak transcription	NHLF	lung
7	chr3:142274800-142296400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:142275600-142296400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:142276800-142296600	Weak transcription	Ovary	ovary
10	chr3:142277400-142296600	Weak transcription	Esophagus	oesophagus
11	chr3:142278400-142295800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:142278400-142296200	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:142279200-142296400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:142279800-142295600	Weak transcription	Thymus	Thymus
15	chr3:142280200-142296200	Weak transcription	Fetal Lung	lung
16	chr3:142282200-142296200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:142282600-142296200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:142282800-142296400	Weak transcription	Fetal Kidney	kidney
19	chr3:142283800-142296400	Weak transcription	Colonic Mucosa	Colon
20	chr3:142284000-142295800	Weak transcription	HUVEC	blood vessel
21	chr3:142284000-142296000	Weak transcription	Adipose Nuclei	Adipose
22	chr3:142284200-142296400	Weak transcription	Left Ventricle	heart
23	chr3:142285200-142294800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:142285200-142295600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:142285200-142295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:142285200-142295600	Weak transcription	HSMM	muscle
27	chr3:142285200-142295800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:142285200-142296200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:142285200-142296200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:142285200-142296400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:142285200-142296400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:142285400-142294600	Weak transcription	NHDF-Ad	bronchial
33	chr3:142285400-142296200	Weak transcription	Fetal Brain Female	brain
34	chr3:142285400-142296400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:142285400-142296400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:142285400-142296400	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:142285400-142296400	Weak transcription	Spleen	Spleen
38	chr3:142285400-142296600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr3:142285600-142294600	Weak transcription	HMEC	breast
40	chr3:142285600-142296400	Weak transcription	Fetal Stomach	stomach
41	chr3:142285800-142295600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:142286600-142295600	Weak transcription	Liver	Liver
43	chr3:142287800-142296400	Weak transcription	Fetal Intestine Large	intestine
44	chr3:142287800-142296400	Weak transcription	Placenta	Placenta
45	chr3:142287800-142296400	Weak transcription	Right Ventricle	heart
46	chr3:142287800-142296600	Weak transcription	Lung	lung
47	chr3:142287800-142296600	Weak transcription	Pancreas	Pancrea
48	chr3:142288000-142294600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr3:142288000-142296600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:142288400-142296200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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