Variant report

Variant	rs533911199
Chromosome Location	chr5:37370853-37370854
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:37369538..37373129-chr5:37377393..37380859,4	MCF-7	breast:
2	chr5:37370037..37373489-chr5:37377973..37381470,5	K562	blood:
3	chr5:37369760..37372730-chr5:37375256..37380889,7	MCF-7	breast:
4	chr1:11967776..11968487-chr5:37370635..37371332,2	Hela-S3	cervix:
5	chr5:37370138..37373249-chr5:37374935..37377740,7	K562	blood:
6	chr5:37370774..37371595-chr8:126009906..126010854,2	Hela-S3	cervix:
7	chr5:37370692..37371320-chr5:72794239..72794798,2	Hela-S3	cervix:
8	chr19:10443916..10444436-chr5:37370772..37371335,2	NB4	blood:
9	chr5:37349723..37351295-chr5:37369578..37371440,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000082068	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000250455	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000161847	Chromatin interaction
ENSG00000145741	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000113569	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
12	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
13	nsv597824	chr5:37206621-37409579	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	nsv597825	chr5:37206621-37430365	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers 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	41 gene(s)	inside rSNPs	diseases
15	nsv880817	chr5:37239240-37465126	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers 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	38 gene(s)	inside rSNPs	diseases
16	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
19	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv1029088	chr5:37285576-37604945	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv597844	chr5:37287836-37567851	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv881076	chr5:37294473-37479198	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	nsv1028058	chr5:37302941-37581735	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv537728	chr5:37302941-37581735	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
27	nsv1028054	chr5:37331852-37586211	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
28	nsv537730	chr5:37331852-37586211	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
29	nsv1030797	chr5:37335832-37445040	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
30	nsv471012	chr5:37349895-37545998	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
31	nsv597845	chr5:37369958-37556926	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37369200-37372200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:37369200-37372400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:37369400-37371000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:37369400-37371000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:37369400-37371000	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr5:37369400-37372200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:37369600-37371000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr5:37369600-37371000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr5:37369600-37371800	Active TSS	Stomach Mucosa	stomach
10	chr5:37369600-37372000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr5:37369600-37372000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr5:37369600-37372200	Active TSS	Psoas Muscle	Psoas
13	chr5:37369800-37371000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr5:37369800-37371400	Active TSS	NHLF	lung
15	chr5:37369800-37371600	Active TSS	HMEC	breast
16	chr5:37369800-37371600	Active TSS	K562	blood
17	chr5:37369800-37371800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr5:37369800-37371800	Active TSS	Colonic Mucosa	Colon
19	chr5:37369800-37371800	Active TSS	Fetal Intestine Small	intestine
20	chr5:37369800-37372000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:37369800-37372000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:37369800-37372000	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr5:37369800-37372200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr5:37369800-37372200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:37369800-37372200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:37369800-37372200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:37369800-37372200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:37369800-37372200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:37369800-37372200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:37369800-37372200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:37369800-37372200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:37369800-37372200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:37370000-37371000	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr5:37370000-37371000	Flanking Active TSS	Liver	Liver
35	chr5:37370000-37371200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:37370000-37371200	Active TSS	Hela-S3	cervix
37	chr5:37370000-37371600	Active TSS	Placenta Amnion	Placenta Amnion
38	chr5:37370000-37371800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:37370000-37371800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:37370000-37371800	Active TSS	Fetal Intestine Large	intestine
41	chr5:37370000-37371800	Active TSS	HSMM	muscle
42	chr5:37370000-37372000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:37370000-37372000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:37370000-37372000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:37370000-37372000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:37370000-37372000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr5:37370000-37372000	Active TSS	Muscle Satellite Cultured Cells	--
48	chr5:37370000-37372000	Active TSS	Ovary	ovary
49	chr5:37370000-37372000	Active TSS	Right Atrium	heart
50	chr5:37370000-37372000	Active TSS	A549	lung

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