Variant report

Variant	rs16838646
Chromosome Location	chr1:149922461-149922462
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149916780..149919549-chr1:149921905..149924910,3	MCF-7	breast:
2	chr1:149914919..149917258-chr1:149922279..149925804,3	K562	blood:
3	chr1:149857330..149860916-chr1:149919512..149922611,4	K562	blood:
4	chr1:149917288..149919017-chr1:149922295..149924895,2	K562	blood:
5	chr1:149911926..149914059-chr1:149920951..149923919,2	K562	blood:

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

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1556934	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs15916	0.83[AMR][1000 genomes]
rs16832989	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832993	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833048	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836857	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16837054	1.00[AMR][1000 genomes]
rs16837367	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16837593	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16838449	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841141	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841623	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841697	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56929499	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57020352	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57182882	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57513077	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58100431	1.00[AMR][1000 genomes]
rs58137104	0.83[AMR][1000 genomes]
rs58688107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58777569	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59462540	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59709800	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59934949	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60631776	1.00[AMR][1000 genomes]
rs6664973	1.00[AMR][1000 genomes]
rs6680574	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694482	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6700399	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73004328	1.00[AMR][1000 genomes]
rs73004398	1.00[AMR][1000 genomes]
rs73004400	1.00[AMR][1000 genomes]
rs73006303	1.00[AMR][1000 genomes]
rs73006306	1.00[AMR][1000 genomes]
rs73006313	1.00[AMR][1000 genomes]
rs73006316	1.00[AMR][1000 genomes]
rs73006318	1.00[AMR][1000 genomes]
rs73006327	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008191	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008199	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008201	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010104	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010113	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010186	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010189	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011904	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011906	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011909	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011910	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011912	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011913	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011915	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011930	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73016112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7523560	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7543861	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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	chr1:149914800-149922600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr1:149914800-149924600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:149915000-149922600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:149915000-149922600	Strong transcription	Placenta	Placenta
12	chr1:149915000-149922800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:149915000-149923600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:149915000-149937600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:149915200-149922600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:149915200-149923600	Strong transcription	Liver	Liver
17	chr1:149915400-149922600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr1:149915400-149922600	Strong transcription	Fetal Muscle Leg	muscle
19	chr1:149915400-149922600	Strong transcription	Stomach Smooth Muscle	stomach
20	chr1:149915400-149923400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:149915400-149923400	Strong transcription	Fetal Intestine Small	intestine
22	chr1:149915600-149922600	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr1:149915600-149922600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:149915600-149922600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:149915600-149922600	Strong transcription	Adipose Nuclei	Adipose
26	chr1:149915600-149923600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr1:149915600-149923600	Strong transcription	Left Ventricle	heart
28	chr1:149915600-149923800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:149915600-149924000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:149916200-149922600	Strong transcription	Fetal Lung	lung
31	chr1:149916600-149922600	Strong transcription	HSMM	muscle
32	chr1:149916800-149924000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:149917000-149929200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:149917000-149929400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:149917200-149931400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:149917400-149929600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:149917600-149929400	Weak transcription	Brain Germinal Matrix	brain
38	chr1:149917600-149929600	Weak transcription	Fetal Kidney	kidney
39	chr1:149918000-149922600	Strong transcription	Brain Substantia Nigra	brain
40	chr1:149918400-149922600	Strong transcription	Fetal Brain Female	brain
41	chr1:149918800-149922600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:149918800-149923800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:149919000-149922600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:149919000-149922600	Strong transcription	Brain Anterior Caudate	brain
45	chr1:149919000-149922600	Strong transcription	HMEC	breast
46	chr1:149919000-149922600	Strong transcription	NH-A	brain
47	chr1:149919000-149923800	Strong transcription	Osteobl	bone
48	chr1:149919000-149924400	Strong transcription	Brain Hippocampus Middle	brain
49	chr1:149919400-149924000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:149919800-149930000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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