Variant report

Variant	rs56283630
Chromosome Location	chr5:96495128-96495129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96351534..96353188-chr5:96493803..96496020,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55741051	0.91[AFR][1000 genomes]
rs56098974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58203977	0.95[AFR][1000 genomes]
rs73139250	1.00[AMR][1000 genomes]
rs73150778	1.00[AMR][1000 genomes]
rs73778017	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778021	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
4	nsv830413	chr5:96450582-96509294	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription 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	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96478400-96495200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:96478400-96507800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:96478800-96495200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:96484400-96495400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:96489200-96495200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:96492200-96498000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:96492200-96510200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:96492600-96496000	Weak transcription	Small Intestine	intestine
9	chr5:96492800-96495200	Weak transcription	Pancreas	Pancrea
10	chr5:96493600-96495200	Weak transcription	HMEC	breast
11	chr5:96493600-96495400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:96493600-96495600	ZNF genes & repeats	A549	lung
13	chr5:96493600-96498200	Strong transcription	Primary B cells from cord blood	blood
14	chr5:96493600-96501600	Weak transcription	NHLF	lung
15	chr5:96493800-96495400	Weak transcription	Brain Angular Gyrus	brain
16	chr5:96493800-96497800	Weak transcription	HUVEC	blood vessel
17	chr5:96494000-96495400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:96494000-96495400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr5:96494000-96495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:96494000-96495600	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr5:96494000-96495800	Strong transcription	Thymus	Thymus
22	chr5:96494000-96496200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:96494000-96496600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:96494000-96496600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:96494000-96496600	Weak transcription	NHDF-Ad	bronchial
26	chr5:96494000-96502800	Weak transcription	Psoas Muscle	Psoas
27	chr5:96494200-96495600	ZNF genes & repeats	Fetal Stomach	stomach
28	chr5:96494200-96495800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:96494200-96496200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:96494200-96496400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:96494200-96496400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:96494200-96496400	Weak transcription	Fetal Lung	lung
33	chr5:96494200-96496600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:96494200-96497400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:96494200-96497800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:96494200-96498000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:96494200-96498000	Weak transcription	Fetal Kidney	kidney
38	chr5:96494200-96499200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:96494200-96499600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:96494200-96501000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr5:96494200-96501400	Weak transcription	Brain Anterior Caudate	brain
42	chr5:96494200-96503000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr5:96494200-96506600	Weak transcription	Ovary	ovary
44	chr5:96494400-96495200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr5:96494400-96495400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr5:96494400-96496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:96494400-96496200	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:96494400-96496200	Weak transcription	NH-A	brain
49	chr5:96494400-96496200	Weak transcription	NHEK	skin
50	chr5:96494400-96496600	Weak transcription	K562	blood

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