Variant report

Variant	rs570614944
Chromosome Location	chr5:43666061-43666062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv968171	chr5:43665149-43674339	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3471542	chr5:43665651-43824536	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv3471543	chr5:43665767-43824443	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43621800-43667400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:43644800-43666400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr5:43650200-43685400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr5:43650600-43673000	Weak transcription	Right Ventricle	heart
5	chr5:43650800-43673200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:43650800-43676200	Weak transcription	Brain Anterior Caudate	brain
7	chr5:43651800-43666400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:43653000-43675600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:43653400-43674200	Weak transcription	HSMMtube	muscle
10	chr5:43657000-43668400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:43657000-43674400	Weak transcription	Pancreas	Pancrea
12	chr5:43657600-43676200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:43657600-43695200	Weak transcription	K562	blood
14	chr5:43659400-43696800	Weak transcription	Gastric	stomach
15	chr5:43659600-43675400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:43659600-43678200	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:43659600-43680400	Weak transcription	Psoas Muscle	Psoas
18	chr5:43659600-43706200	Weak transcription	Small Intestine	intestine
19	chr5:43659600-43710000	Weak transcription	Ovary	ovary
20	chr5:43660000-43685600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:43660200-43684800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:43660800-43666400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:43661000-43666200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:43661000-43666200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:43661000-43666200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:43661000-43673200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:43661000-43675600	Weak transcription	Primary T cells from cord blood	blood
28	chr5:43661000-43675600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:43661000-43675600	Weak transcription	Fetal Kidney	kidney
30	chr5:43661000-43675600	Weak transcription	Left Ventricle	heart
31	chr5:43661000-43676200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:43661000-43677000	Weak transcription	Brain Angular Gyrus	brain
33	chr5:43661000-43677000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:43661000-43680400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:43661000-43680400	Weak transcription	Brain Substantia Nigra	brain
36	chr5:43661000-43680400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr5:43661000-43680400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:43661000-43680400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:43661000-43680600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr5:43661000-43682400	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:43661000-43682600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr5:43661000-43683200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:43661000-43695600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr5:43661000-43702800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr5:43661000-43711400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:43661200-43678400	Weak transcription	HUVEC	blood vessel
47	chr5:43661600-43675600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:43662400-43675400	Weak transcription	Hela-S3	cervix
49	chr5:43663800-43666400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:43664000-43666200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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