Variant report

Variant	rs568405553
Chromosome Location	chr5:37370768-37370769
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr5:37370692..37371320-chr5:72794239..72794798,2	Hela-S3	cervix:
7	chr5:37349723..37351295-chr5:37369578..37371440,2	K562	blood:

Variant related genes	Relation type
ENSG00000199347	Chromatin interaction
ENSG00000145741	Chromatin interaction
ENSG00000082068	Chromatin interaction
ENSG00000113569	Chromatin interaction
ENSG00000250455	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	chr5:37369600-37370800	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr5:37369600-37370800	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr5:37369600-37370800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr5:37369600-37370800	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr5:37369600-37371000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr5:37369600-37371000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr5:37369600-37371800	Active TSS	Stomach Mucosa	stomach
14	chr5:37369600-37372000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr5:37369600-37372000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr5:37369600-37372200	Active TSS	Psoas Muscle	Psoas
17	chr5:37369800-37371000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr5:37369800-37371400	Active TSS	NHLF	lung
19	chr5:37369800-37371600	Active TSS	HMEC	breast
20	chr5:37369800-37371600	Active TSS	K562	blood
21	chr5:37369800-37371800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr5:37369800-37371800	Active TSS	Colonic Mucosa	Colon
23	chr5:37369800-37371800	Active TSS	Fetal Intestine Small	intestine
24	chr5:37369800-37372000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:37369800-37372000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr5:37369800-37372000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr5:37369800-37372200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr5:37369800-37372200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:37369800-37372200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:37369800-37372200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:37369800-37372200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:37369800-37372200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:37369800-37372200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:37369800-37372200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:37369800-37372200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:37369800-37372200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:37370000-37370800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr5:37370000-37370800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr5:37370000-37371000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr5:37370000-37371000	Flanking Active TSS	Liver	Liver
41	chr5:37370000-37371200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:37370000-37371200	Active TSS	Hela-S3	cervix
43	chr5:37370000-37371600	Active TSS	Placenta Amnion	Placenta Amnion
44	chr5:37370000-37371800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:37370000-37371800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:37370000-37371800	Active TSS	Fetal Intestine Large	intestine
47	chr5:37370000-37371800	Active TSS	HSMM	muscle
48	chr5:37370000-37372000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:37370000-37372000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:37370000-37372000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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