Variant report

Variant	rs61616749
Chromosome Location	chr5:100176283-100176284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17160818	0.92[AFR][1000 genomes]
rs17725086	0.92[AFR][1000 genomes]
rs55667057	0.88[AFR][1000 genomes]
rs56150508	1.00[AFR][1000 genomes]
rs59131585	0.88[AFR][1000 genomes]
rs73775452	0.88[AFR][1000 genomes]
rs73775454	1.00[AFR][1000 genomes]
rs73775645	1.00[AFR][1000 genomes]
rs73775646	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1834675	chr5:100143084-100535029	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv969238	chr5:100174140-100182830	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100147600-100218000	Weak transcription	Thymus	Thymus
2	chr5:100147800-100179000	Weak transcription	Fetal Thymus	thymus
3	chr5:100165000-100176800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr5:100168800-100176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:100170600-100179000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:100172400-100176400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:100173200-100177000	Enhancers	HUVEC	blood vessel
8	chr5:100173600-100176600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr5:100173600-100176600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:100173600-100176800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:100173800-100177000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:100174000-100176600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:100174000-100190600	Weak transcription	Fetal Lung	lung
14	chr5:100174200-100176600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:100174200-100177000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:100174200-100179200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:100174400-100177000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:100174600-100177600	Weak transcription	Dnd41	blood
19	chr5:100174800-100176400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr5:100174800-100177200	Enhancers	Primary T cells from cord blood	blood
21	chr5:100175000-100177800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr5:100175200-100176800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:100175200-100177800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:100175400-100177000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:100175400-100177800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr5:100175400-100178200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:100175600-100176400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr5:100175600-100176600	Weak transcription	Placenta	Placenta
29	chr5:100175800-100177400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr5:100175800-100177800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:100175800-100177800	Enhancers	NHEK	skin
32	chr5:100175800-100178000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:100175800-100178400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr5:100176000-100176400	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr5:100176000-100176600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:100176000-100176600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:100176000-100176600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr5:100176000-100177400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:100176000-100177600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:100176000-100177600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:100176000-100177600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:100176000-100177600	Flanking Active TSS	A549	lung
43	chr5:100176000-100177800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr5:100176000-100177800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:100176000-100177800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:100176000-100177800	Enhancers	Primary B cells from cord blood	blood
47	chr5:100176000-100177800	Enhancers	HMEC	breast
48	chr5:100176000-100178000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:100176000-100178800	Flanking Active TSS	GM12878-XiMat	blood
50	chr5:100176200-100176400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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