Variant report

Variant	rs16838432
Chromosome Location	chr1:149920616-149920617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149915088..149918553-chr1:149919543..149922187,5	K562	blood:
2	chr1:149911144..149914271-chr1:149919148..149922451,3	K562	blood:
3	chr1:149916193..149918470-chr1:149919311..149921595,2	MCF-7	breast:
4	chr1:149857330..149860916-chr1:149919512..149922611,4	K562	blood:

Variant related genes	Relation type
ENSG00000184678	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184260	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10494259	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10494261	0.92[ASW][hapmap];0.88[MKK][hapmap]
rs1061955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11205308	0.92[ASW][hapmap];0.91[MKK][hapmap]
rs11205313	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs11205314	1.00[AMR][1000 genomes]
rs12022928	0.90[YRI][hapmap]
rs12060171	1.00[AMR][1000 genomes]
rs12060830	1.00[ASW][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap]
rs12064434	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12082035	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091025	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs12091858	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs12091904	1.00[AMR][1000 genomes]
rs16833063	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833149	0.90[YRI][hapmap]
rs16833175	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs16833178	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs4279885	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58342123	1.00[AMR][1000 genomes]
rs74126211	1.00[AMR][1000 genomes]
rs7517085	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804143	0.85[ASW][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9988489	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];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	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149909400-149947000	Weak transcription	Fetal Brain Male	brain
2	chr1:149910000-149934200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:149910200-149929800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:149911400-149933800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:149912600-149941600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:149912800-149933800	Weak transcription	Stomach Mucosa	stomach
7	chr1:149914400-149937400	Weak transcription	Fetal Heart	heart
8	chr1:149914800-149922200	Strong transcription	Fetal Stomach	stomach
9	chr1:149914800-149922400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:149914800-149922400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:149914800-149922400	Strong transcription	HSMMtube	muscle
12	chr1:149914800-149922600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr1:149914800-149924600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:149915000-149922600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:149915000-149922600	Strong transcription	Placenta	Placenta
16	chr1:149915000-149922800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:149915000-149923600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:149915000-149937600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:149915200-149922400	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:149915200-149922600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:149915200-149923600	Strong transcription	Liver	Liver
22	chr1:149915400-149921800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:149915400-149922200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:149915400-149922400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:149915400-149922400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:149915400-149922600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr1:149915400-149922600	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:149915400-149922600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr1:149915400-149923400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:149915400-149923400	Strong transcription	Fetal Intestine Small	intestine
31	chr1:149915600-149922200	Strong transcription	Gastric	stomach
32	chr1:149915600-149922400	Strong transcription	Fetal Intestine Large	intestine
33	chr1:149915600-149922400	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr1:149915600-149922600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:149915600-149922600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:149915600-149922600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:149915600-149922600	Strong transcription	Adipose Nuclei	Adipose
38	chr1:149915600-149923600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:149915600-149923600	Strong transcription	Left Ventricle	heart
40	chr1:149915600-149923800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:149915600-149924000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:149915800-149922000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:149915800-149922200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:149915800-149922200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr1:149915800-149922400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:149915800-149922400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr1:149916200-149922600	Strong transcription	Fetal Lung	lung
48	chr1:149916600-149922200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:149916600-149922600	Strong transcription	HSMM	muscle
50	chr1:149916800-149924000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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