Variant report

Variant	rs62409226
Chromosome Location	chr3:196157381-196157382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr3:196157293-196160008	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:196141592..196145403-chr3:196157124..196159775,4	MCF-7	breast:
2	chr3:196062778..196068235-chr3:196157235..196160927,9	K562	blood:
3	chr3:196122393..196124913-chr3:196156464..196158992,2	K562	blood:
4	chr3:196141252..196144269-chr3:196156132..196159326,3	K562	blood:
5	chr3:196156342..196159977-chr3:196227568..196231019,3	MCF-7	breast:
6	chr3:196014434..196017243-chr3:196157002..196159307,2	K562	blood:

No data

Variant related genes	Relation type
UBXN7-AS1	TF binding region
ENSG00000163961	Chromatin interaction
ENSG00000145107	Chromatin interaction
ENSG00000273331	Chromatin interaction
ENSG00000241868	Chromatin interaction
ENSG00000163960	Chromatin interaction
ENSG00000161217	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62409217	0.88[EUR][1000 genomes]
rs6583309	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers 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	45 gene(s)	inside rSNPs	diseases
7	nsv1003764	chr3:196028141-196190687	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking 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	30 gene(s)	inside rSNPs	diseases
8	nsv536895	chr3:196028141-196190687	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	esv1844755	chr3:196057616-196190350	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv878183	chr3:196072442-196181228	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	55 gene(s)	inside rSNPs	diseases
14	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196118600-196157400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:196125200-196157400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:196127600-196157400	Weak transcription	HUVEC	blood vessel
4	chr3:196132600-196157400	Weak transcription	Liver	Liver
5	chr3:196134200-196157400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:196134600-196157800	Weak transcription	A549	lung
7	chr3:196141600-196157400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr3:196141600-196158000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:196142000-196157400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:196143600-196157400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:196145800-196157400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:196147200-196157400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:196147800-196158000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:196148200-196157800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:196148600-196157400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:196149800-196158000	Weak transcription	Placenta	Placenta
17	chr3:196150200-196157400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:196150400-196157400	Weak transcription	Osteobl	bone
19	chr3:196150400-196157800	Weak transcription	NH-A	brain
20	chr3:196150400-196158200	Weak transcription	Aorta	Aorta
21	chr3:196150400-196158200	Weak transcription	Colonic Mucosa	Colon
22	chr3:196150600-196157400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:196150600-196157400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:196150600-196157400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:196150600-196157400	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:196150600-196157400	Weak transcription	Fetal Lung	lung
27	chr3:196150600-196157400	Weak transcription	Ovary	ovary
28	chr3:196150600-196157400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr3:196150600-196157400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr3:196150600-196157400	Weak transcription	Right Atrium	heart
31	chr3:196150600-196157400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr3:196150600-196157400	Weak transcription	HMEC	breast
33	chr3:196150600-196157400	Weak transcription	HSMM	muscle
34	chr3:196150600-196157400	Weak transcription	HSMMtube	muscle
35	chr3:196150600-196158000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:196150600-196158000	Weak transcription	Brain Substantia Nigra	brain
37	chr3:196150600-196158000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:196150600-196158200	Weak transcription	Esophagus	oesophagus
39	chr3:196150600-196158200	Weak transcription	Gastric	stomach
40	chr3:196150600-196158200	Weak transcription	Small Intestine	intestine
41	chr3:196150600-196158200	Weak transcription	Spleen	Spleen
42	chr3:196151200-196157400	Weak transcription	Brain Angular Gyrus	brain
43	chr3:196152000-196157400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr3:196152200-196157600	Weak transcription	Fetal Heart	heart
45	chr3:196154000-196157800	Weak transcription	Fetal Kidney	kidney
46	chr3:196155000-196157400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:196155000-196157400	Weak transcription	Adipose Nuclei	Adipose
48	chr3:196155000-196158200	Weak transcription	Lung	lung
49	chr3:196155200-196157400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:196155200-196157400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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