Variant report

Variant	rs577410953
Chromosome Location	chr5:37143768-37143769
allele	-/T
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	SETDB1	chr5:37143401-37143847	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37139071..37141046-chr5:37143602..37145586,2	MCF-7	breast:

Variant related genes	Relation type
C5orf42	TF binding region
ENSG00000197603	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
6	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
7	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv597822	chr5:36997953-37147152	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	esv3470436	chr5:37143745-37144418	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37082800-37169200	Weak transcription	Spleen	Spleen
2	chr5:37105800-37156200	Weak transcription	NHLF	lung
3	chr5:37106200-37150200	Weak transcription	NHEK	skin
4	chr5:37108200-37143800	Weak transcription	Gastric	stomach
5	chr5:37112200-37198200	Weak transcription	Small Intestine	intestine
6	chr5:37113600-37222200	Weak transcription	Psoas Muscle	Psoas
7	chr5:37113800-37157000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:37114600-37165400	Weak transcription	HMEC	breast
9	chr5:37118600-37153600	Weak transcription	Pancreas	Pancrea
10	chr5:37122000-37156000	Weak transcription	Brain Substantia Nigra	brain
11	chr5:37122800-37150800	Weak transcription	Fetal Heart	heart
12	chr5:37124200-37149400	Weak transcription	NH-A	brain
13	chr5:37133200-37169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:37133600-37144000	Strong transcription	HSMM	muscle
15	chr5:37134200-37171200	Weak transcription	Colonic Mucosa	Colon
16	chr5:37135400-37146200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:37136200-37197200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr5:37136800-37170000	Weak transcription	Esophagus	oesophagus
19	chr5:37137000-37145800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:37137200-37143800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:37137200-37143800	Strong transcription	Fetal Thymus	thymus
22	chr5:37137400-37174000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:37137600-37169000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:37137800-37143800	Weak transcription	Fetal Intestine Small	intestine
25	chr5:37138000-37150200	Weak transcription	Primary T cells from cord blood	blood
26	chr5:37138000-37156000	Weak transcription	Aorta	Aorta
27	chr5:37138000-37157000	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:37138200-37143800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:37138200-37143800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:37138200-37143800	Weak transcription	Ovary	ovary
31	chr5:37138400-37143800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:37138400-37148400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:37138400-37155200	Weak transcription	Brain Angular Gyrus	brain
34	chr5:37138400-37156800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:37138400-37196800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:37138600-37150400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr5:37138600-37150600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:37138600-37153400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:37138600-37179600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:37138800-37156800	Weak transcription	HUVEC	blood vessel
41	chr5:37139000-37143800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr5:37139000-37150200	Weak transcription	Liver	Liver
43	chr5:37139000-37150200	Weak transcription	Brain Anterior Caudate	brain
44	chr5:37139000-37150600	Weak transcription	Primary B cells from cord blood	blood
45	chr5:37139000-37151800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr5:37139000-37152200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:37140000-37150200	Weak transcription	Right Ventricle	heart
48	chr5:37140000-37151800	Weak transcription	Thymus	Thymus
49	chr5:37140600-37144000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:37141000-37143800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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