Variant report

Variant	rs31994
Chromosome Location	chr5:14699582-14699583
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	chr5:14697728..14700612-chr5:14703871..14705375,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13159680	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs149497	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs152719	0.88[ASN][1000 genomes]
rs152970	0.88[ASN][1000 genomes]
rs152971	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs152972	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs152973	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs153831	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs153832	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs153833	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs153835	0.88[ASN][1000 genomes]
rs153836	0.84[EUR][1000 genomes]
rs153837	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs153934	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs154667	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17249895	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2011206	0.85[EUR][1000 genomes]
rs2455240	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs250878	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs25941	1.00[CHB][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs25942	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs25943	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs28107	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs31993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31995	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34087737	1.00[ASN][1000 genomes]
rs34617159	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs39609	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430035	0.91[EUR][1000 genomes]
rs455943	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs456977	0.94[EUR][1000 genomes]
rs457377	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs458863	0.91[EUR][1000 genomes]
rs461015	0.91[EUR][1000 genomes]
rs461056	0.94[EUR][1000 genomes]
rs461154	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs620434	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14674000-14712800	Strong transcription	Fetal Intestine Large	intestine
2	chr5:14676800-14705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:14677600-14705600	Strong transcription	Dnd41	blood
4	chr5:14677800-14704000	Strong transcription	HepG2	liver
5	chr5:14678600-14704200	Strong transcription	Fetal Thymus	thymus
6	chr5:14684600-14726200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:14686400-14700800	Strong transcription	Primary T cells from cord blood	blood
8	chr5:14686800-14704200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:14687000-14700200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr5:14687800-14700400	Strong transcription	HSMM	muscle
11	chr5:14687800-14702800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:14690600-14700800	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr5:14690800-14699800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:14690800-14700000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:14690800-14700200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:14690800-14700200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:14690800-14700200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:14690800-14700400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:14690800-14700400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr5:14690800-14700400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr5:14690800-14700400	Strong transcription	HMEC	breast
22	chr5:14690800-14701000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr5:14690800-14702600	Strong transcription	Primary B cells from cord blood	blood
24	chr5:14690800-14703000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:14690800-14704000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:14690800-14706000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:14690800-14710600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:14690800-14717200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:14691000-14700400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:14691000-14700800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr5:14691000-14711000	Weak transcription	Fetal Brain Male	brain
32	chr5:14691000-14711200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:14691000-14712800	Strong transcription	Hela-S3	cervix
34	chr5:14691000-14722200	Weak transcription	Stomach Mucosa	stomach
35	chr5:14691200-14720400	Weak transcription	Psoas Muscle	Psoas
36	chr5:14691600-14699600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:14691600-14715000	Strong transcription	GM12878-XiMat	blood
38	chr5:14693000-14701200	Strong transcription	NHDF-Ad	bronchial
39	chr5:14693400-14707600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:14694000-14717800	Weak transcription	Fetal Kidney	kidney
41	chr5:14694400-14706200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr5:14694600-14700000	Weak transcription	Right Ventricle	heart
43	chr5:14694600-14700800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr5:14694600-14701000	Weak transcription	Colonic Mucosa	Colon
45	chr5:14694600-14706800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:14695600-14700200	Strong transcription	Placenta	Placenta
47	chr5:14695600-14700400	Strong transcription	Fetal Muscle Leg	muscle
48	chr5:14695800-14699600	Strong transcription	Fetal Lung	lung
49	chr5:14695800-14701000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr5:14696200-14700400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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