Variant report

Variant	rs7716932
Chromosome Location	chr5:126207491-126207492
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	chr5:126207189..126208908-chr5:126210133..126213667,3	K562	blood:
2	chr5:126203203..126206688-chr5:126207473..126211338,4	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs56676434	0.83[AMR][1000 genomes]
rs57826420	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58148331	1.00[AMR][1000 genomes]
rs58223491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58369492	1.00[AMR][1000 genomes]
rs58412027	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60037929	1.00[AMR][1000 genomes]
rs60564596	0.83[AMR][1000 genomes]
rs61270363	1.00[AMR][1000 genomes]
rs61396259	1.00[AMR][1000 genomes]
rs6865595	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6868192	1.00[AMR][1000 genomes]
rs6868511	1.00[AMR][1000 genomes]
rs6868955	1.00[AMR][1000 genomes]
rs6880088	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6880409	1.00[AMR][1000 genomes]
rs73335436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335454	1.00[AMR][1000 genomes]
rs73335458	1.00[AMR][1000 genomes]
rs73335489	1.00[AMR][1000 genomes]
rs73335496	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337212	1.00[AMR][1000 genomes]
rs73337215	1.00[AMR][1000 genomes]
rs73337227	1.00[AMR][1000 genomes]
rs73337239	1.00[AMR][1000 genomes]
rs73337244	1.00[AMR][1000 genomes]
rs73337246	1.00[AMR][1000 genomes]
rs73337260	1.00[AMR][1000 genomes]
rs73337261	1.00[AMR][1000 genomes]
rs73337269	1.00[AMR][1000 genomes]
rs73337280	1.00[AMR][1000 genomes]
rs73337285	1.00[AMR][1000 genomes]
rs73337289	1.00[AMR][1000 genomes]
rs73337292	1.00[AMR][1000 genomes]
rs73337293	1.00[AMR][1000 genomes]
rs73337295	1.00[AMR][1000 genomes]
rs73339203	1.00[AMR][1000 genomes]
rs73339207	1.00[AMR][1000 genomes]
rs73339210	1.00[AMR][1000 genomes]
rs73339218	1.00[AMR][1000 genomes]
rs73339225	1.00[AMR][1000 genomes]
rs73339241	1.00[AMR][1000 genomes]
rs73339244	1.00[AMR][1000 genomes]
rs73339298	0.83[AMR][1000 genomes]
rs73339301	0.83[AMR][1000 genomes]
rs73341206	0.83[AMR][1000 genomes]
rs7709283	1.00[AMR][1000 genomes]
rs7717574	1.00[AMR][1000 genomes]
rs7722202	1.00[AMR][1000 genomes]
rs7722206	1.00[AMR][1000 genomes]
rs7729101	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126183600-126210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:126194400-126208000	Weak transcription	Right Ventricle	heart
3	chr5:126200400-126207800	Weak transcription	Dnd41	blood
4	chr5:126201800-126253400	Weak transcription	A549	lung
5	chr5:126203400-126210800	Weak transcription	Right Atrium	heart
6	chr5:126203600-126210400	Weak transcription	Fetal Heart	heart
7	chr5:126204000-126210800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:126205000-126212800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:126205000-126214000	Weak transcription	Pancreas	Pancrea
10	chr5:126205200-126208000	Weak transcription	Ovary	ovary
11	chr5:126205200-126208000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:126205200-126208400	Weak transcription	Fetal Kidney	kidney
13	chr5:126205200-126210400	Weak transcription	Placenta	Placenta
14	chr5:126205200-126210400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:126205200-126210400	Weak transcription	Spleen	Spleen
16	chr5:126205200-126210800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:126205200-126210800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:126205200-126214400	Weak transcription	Psoas Muscle	Psoas
19	chr5:126205200-126216200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:126205200-126219200	Weak transcription	Osteobl	bone
21	chr5:126205200-126245600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr5:126205400-126212200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:126205400-126212600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:126205400-126212600	Weak transcription	HUVEC	blood vessel
25	chr5:126205400-126214000	Weak transcription	Adipose Nuclei	Adipose
26	chr5:126205400-126214200	Enhancers	Fetal Brain Male	brain
27	chr5:126205400-126215000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:126205400-126217200	Weak transcription	Brain Anterior Caudate	brain
29	chr5:126205400-126219200	Weak transcription	Brain Substantia Nigra	brain
30	chr5:126205400-126219600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:126205400-126220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:126205400-126220800	Weak transcription	Thymus	Thymus
33	chr5:126205400-126221400	Weak transcription	Fetal Thymus	thymus
34	chr5:126205400-126245600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:126205600-126209600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:126205600-126210200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:126205600-126210600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:126205600-126210600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:126205600-126215400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:126205600-126220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:126205600-126223400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr5:126205600-126238200	Weak transcription	Primary T cells from cord blood	blood
43	chr5:126205800-126208200	Weak transcription	Fetal Brain Female	brain
44	chr5:126205800-126208200	Weak transcription	HSMMtube	muscle
45	chr5:126205800-126210400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:126205800-126211000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:126205800-126211000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:126206000-126208200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:126206000-126209000	Strong transcription	HSMM	muscle
50	chr5:126206000-126210800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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