Variant report

Variant	rs550062336
Chromosome Location	chr5:36946807-36946808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36875293..36878744-chr5:36944693..36947433,6	MCF-7	breast:
2	chr5:36945026..36947869-chr5:36950785..36953502,2	K562	blood:
3	chr5:36876108..36878603-chr5:36945963..36949960,5	MCF-7	breast:
4	chr5:36945602..36948266-chr5:36961950..36964005,2	K562	blood:

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1033562	chr5:36927652-36994811	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1023362	chr5:36927652-37010749	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
10	nsv1017947	chr5:36927652-37017180	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv1029936	chr5:36927652-37025871	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
12	nsv1029319	chr5:36928654-37017180	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
13	nsv1030883	chr5:36932448-37039857	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
14	esv1803659	chr5:36935129-37039857	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
15	nsv1034694	chr5:36946454-36991605	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1015172	chr5:36946454-36993280	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1033778	chr5:36946454-36994811	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36919800-36953000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:36919800-36961600	Weak transcription	K562	blood
3	chr5:36920400-36951400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:36924800-36955200	Weak transcription	Dnd41	blood
5	chr5:36927600-36961600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:36929600-36947400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:36933200-36962000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:36933400-36949600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:36935200-36947200	Weak transcription	Primary T cells from cord blood	blood
10	chr5:36936000-36951600	Weak transcription	Primary B cells from cord blood	blood
11	chr5:36936800-36951000	Weak transcription	Right Ventricle	heart
12	chr5:36938000-36949200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:36938200-36948200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:36939200-36950800	Weak transcription	Ovary	ovary
15	chr5:36939400-36950800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:36939600-36950800	Weak transcription	Adipose Nuclei	Adipose
17	chr5:36939600-36954200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:36939600-36955400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:36940200-36950800	Weak transcription	Hela-S3	cervix
20	chr5:36940200-36955600	Weak transcription	Fetal Thymus	thymus
21	chr5:36940400-36950600	Weak transcription	HepG2	liver
22	chr5:36940600-36948400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:36940600-36949400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr5:36940600-36956000	Weak transcription	Fetal Intestine Small	intestine
25	chr5:36940600-36985400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:36940800-36948200	Weak transcription	HSMM	muscle
27	chr5:36940800-36950400	Weak transcription	Fetal Intestine Large	intestine
28	chr5:36940800-36956600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:36941200-36947000	Weak transcription	A549	lung
30	chr5:36941200-36947600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:36941200-36950600	Weak transcription	GM12878-XiMat	blood
32	chr5:36943600-36947400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:36944200-36950800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:36944200-36957200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:36944400-36950400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:36944400-36955200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:36944600-36947000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:36944600-36947400	Weak transcription	Brain Angular Gyrus	brain
39	chr5:36944600-36950400	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:36944600-36950600	Weak transcription	Brain Substantia Nigra	brain
41	chr5:36944600-36950800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:36944800-36955400	Weak transcription	Placenta	Placenta
43	chr5:36945000-36950600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:36945200-36950400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:36945400-36951600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr5:36945600-36949800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:36945600-36952000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr5:36945800-36948600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr5:36945800-36950800	Enhancers	NHLF	lung
50	chr5:36945800-36951000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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