Variant report

Variant	rs71329223
Chromosome Location	chr3:121266067-121266068
allele	C/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	SIX5	chr3:121264551-121266074	A549	lung:	n/a	n/a
2	MXI1	chr3:121263658-121266103	IMR90	lung:	n/a	n/a
3	RAD21	chr3:121264604-121266123	SK-N-SH	brain:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
4	RAD21	chr3:121265387-121266094	A549	lung:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
5	SMC3	chr3:121264465-121266107	SK-N-SH	brain:	n/a	chr3:121265703-121265717 chr3:121264952-121264960

No.	Distal block	Cell Line	Cell type
1	chr3:121264864..121267091-chr3:122101354..122103102,2	MCF-7	breast:
2	chr3:121263813..121266298-chr3:122398939..122401596,2	K562	blood:
3	chr3:121265150..121267222-chr3:121267374..121269393,2	K562	blood:
4	chr3:121264839..121267237-chr3:122281910..122284575,2	MCF-7	breast:
5	chr3:121265697..121266207-chr3:122977401..122978341,2	K562	blood:

Variant related genes	Relation type
POLQ	TF binding region
ENSG00000163840	Chromatin interaction
ENSG00000160124	Chromatin interaction
ENSG00000138496	Chromatin interaction
ENSG00000114023	Chromatin interaction
ENSG00000173193	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers 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	50 gene(s)	inside rSNPs	diseases
4	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv877381	chr3:121192350-121343500	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv999349	chr3:121253990-121360206	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3445327	chr3:121260311-121288302	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv2757006	chr3:121264886-121323465	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv2759172	chr3:121264886-121323465	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121265600-121266200	Active TSS	HepG2	liver
2	chr3:121265600-121267200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:121265600-121267200	Weak transcription	Stomach Mucosa	stomach
4	chr3:121265600-121271000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:121265800-121266200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr3:121265800-121266400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr3:121265800-121267200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:121265800-121267200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:121265800-121267200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:121265800-121267200	Weak transcription	Fetal Intestine Large	intestine
11	chr3:121265800-121267200	Weak transcription	Fetal Intestine Small	intestine
12	chr3:121265800-121267200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:121265800-121267200	Weak transcription	HMEC	breast
14	chr3:121265800-121267200	Weak transcription	NHEK	skin
15	chr3:121265800-121267400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:121265800-121267400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:121265800-121267800	Enhancers	GM12878-XiMat	blood
18	chr3:121265800-121268600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:121265800-121269200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:121265800-121269200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:121265800-121270600	Weak transcription	Fetal Lung	lung
22	chr3:121265800-121270800	Weak transcription	K562	blood
23	chr3:121265800-121271200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:121265800-121271200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:121265800-121271400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:121265800-121280600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:121266000-121266400	Enhancers	Liver	Liver
28	chr3:121266000-121267000	Weak transcription	Primary B cells from cord blood	blood
29	chr3:121266000-121267200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:121266000-121267200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr3:121266000-121271000	Weak transcription	A549	lung
32	chr3:121266000-121271200	Weak transcription	Brain Anterior Caudate	brain

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