Variant report

Variant	rs2271452
Chromosome Location	chr5:9547708-9547709
allele	A/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	TCF12	chr5:9547702-9547944	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:9547640-9548135	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr5:9547703-9548141	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr5:9547627-9548051	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:9547205-9548187	ProgFib	skin:	n/a	n/a
6	YY1	chr5:9547671-9548072	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:9547693-9548102	H1-hESC	embryonic stem cell:	n/a	n/a
8	SP1	chr5:9547609-9548096	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr5:9544189-9548175	IMR90	lung:	n/a	n/a
10	RAD21	chr5:9547311-9548203	IMR90	lung:	n/a	chr5:9547846-9547860
11	TBP	chr5:9547685-9548171	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr5:9547705-9548069	H1-hESC	embryonic stem cell:	n/a	chr5:9547846-9547860
13	RAD21	chr5:9547587-9548091	H1-hESC	embryonic stem cell:	n/a	chr5:9547846-9547860
14	MAZ	chr5:9544024-9548426	IMR90	lung:	n/a	chr5:9547821-9547831 chr5:9545804-9545814 chr5:9547149-9547159 chr5:9545538-9545548

No.	Distal block	Cell Line	Cell type
1	chr5:9546514..9548478-chr5:9550572..9552547,2	K562	blood:
2	chr5:9546585..9548880-chr5:9563821..9566752,2	K562	blood:
3	chr5:9546664..9548240-chr5:9561037..9563217,2	MCF-7	breast:

Variant related genes	Relation type
SEMA5A	TF binding region
SNORD123	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4702636	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs71597593	0.87[EUR][1000 genomes]
rs930076	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1015378	chr5:9053542-9617963	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv537640	chr5:9053542-9617963	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv597071	chr5:9182376-9760599	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
5	nsv1032672	chr5:9182409-9843893	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1035075	chr5:9182584-9843723	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv537641	chr5:9182584-9843723	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1034637	chr5:9182784-9741743	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv537642	chr5:9182784-9741743	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1028656	chr5:9196001-9837040	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1016885	chr5:9218932-9575594	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1026078	chr5:9222811-9591290	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Active TSS Flanking 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	7 gene(s)	inside rSNPs	diseases
13	nsv1022137	chr5:9225121-9745434	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv537643	chr5:9225121-9745434	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1022574	chr5:9314645-9647238	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv869120	chr5:9491731-10149255	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv1018275	chr5:9504897-9560199	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv537644	chr5:9504897-9560199	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv597073	chr5:9533854-9550642	Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv1023329	chr5:9543307-9731720	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9542800-9548400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:9543000-9547800	Active TSS	Brain Hippocampus Middle	brain
3	chr5:9543000-9548200	Active TSS	Aorta	Aorta
4	chr5:9543200-9548200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:9543200-9548200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr5:9543200-9548200	Active TSS	Right Atrium	heart
7	chr5:9543400-9548000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:9543400-9548400	Active TSS	NHLF	lung
9	chr5:9543600-9548400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:9543800-9547800	Active TSS	Fetal Lung	lung
11	chr5:9543800-9548000	Active TSS	Fetal Heart	heart
12	chr5:9543800-9548200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:9543800-9548200	Active TSS	Fetal Kidney	kidney
14	chr5:9543800-9548600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:9543800-9548800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:9543800-9548800	Active TSS	Placenta Amnion	Placenta Amnion
17	chr5:9544200-9548000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:9544200-9548000	Active TSS	Ovary	ovary
19	chr5:9544200-9548400	Active TSS	NHDF-Ad	bronchial
20	chr5:9544400-9547800	Active TSS	Pancreas	Pancrea
21	chr5:9544400-9548200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr5:9544400-9548400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:9544400-9548400	Active TSS	Osteobl	bone
24	chr5:9544600-9548000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr5:9544600-9548400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:9544600-9548600	Active TSS	Muscle Satellite Cultured Cells	--
27	chr5:9545200-9547800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:9545200-9548400	Active TSS	Duodenum Mucosa	Duodenum
29	chr5:9545400-9547800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:9545400-9548200	Active TSS	Brain Germinal Matrix	brain
31	chr5:9545600-9547800	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr5:9545600-9547800	Active TSS	Esophagus	oesophagus
33	chr5:9545600-9547800	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr5:9545600-9548000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr5:9545600-9548000	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr5:9545600-9548000	Active TSS	Rectal Smooth Muscle	rectum
37	chr5:9545600-9548000	Active TSS	Small Intestine	intestine
38	chr5:9545600-9548600	Active TSS	HMEC	breast
39	chr5:9545800-9547800	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr5:9545800-9547800	Active TSS	Brain Anterior Caudate	brain
41	chr5:9545800-9547800	Active TSS	NH-A	brain
42	chr5:9545800-9548000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr5:9545800-9548000	Active TSS	Gastric	stomach
44	chr5:9545800-9548200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:9546000-9548000	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr5:9546000-9548400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:9546000-9548400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:9546200-9547800	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr5:9546600-9548200	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr5:9546800-9547800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland

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