Variant report

Variant	rs16833048
Chromosome Location	chr1:149977913-149977914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149857637..149860180-chr1:149975323..149978792,4	K562	blood:
2	chr1:149855536..149863300-chr1:149977462..149985642,29	K562	blood:
3	chr1:149977821..149984701-chr1:150037094..150041280,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184678	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12059874	1.00[MEX][hapmap]
rs1556934	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs15916	0.83[AMR][1000 genomes]
rs16832989	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832993	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836857	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16837054	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16837367	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16837593	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16838449	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16838646	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841141	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841623	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841697	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56929499	1.00[AMR][1000 genomes]
rs57020352	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57182882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57513077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58100431	1.00[AMR][1000 genomes]
rs58137104	0.83[AMR][1000 genomes]
rs58688107	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58777569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59462540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59709800	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59934949	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60631776	1.00[AMR][1000 genomes]
rs6664973	1.00[AMR][1000 genomes]
rs6680574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694482	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6700399	0.91[YRI][hapmap];0.94[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	1.00[AMR][1000 genomes]
rs73006333	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008163	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008167	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008171	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011904	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011906	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011909	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011912	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011913	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011915	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011930	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73016112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7523560	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7543861	1.00[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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149948200-149981000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:149948400-149981400	Weak transcription	Esophagus	oesophagus
3	chr1:149952200-149980800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:149953000-149978800	Weak transcription	Pancreas	Pancrea
5	chr1:149957800-149978600	Weak transcription	Spleen	Spleen
6	chr1:149965000-149978400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:149965000-149981400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:149967400-149978600	Weak transcription	Gastric	stomach
9	chr1:149967800-149981200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:149968200-149980800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:149968400-149980800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:149968600-149980000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:149969000-149980800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:149969600-149978600	Weak transcription	HepG2	liver
15	chr1:149969600-149978800	Weak transcription	HMEC	breast
16	chr1:149969800-149979000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:149969800-149979800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:149969800-149981400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:149970000-149978600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:149970000-149978800	Weak transcription	Small Intestine	intestine
21	chr1:149970000-149980400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:149970000-149981000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:149970000-149981000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:149970000-149981000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:149970200-149980000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:149970200-149980600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:149970400-149978600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:149970400-149979800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:149970600-149980000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:149971600-149978200	Strong transcription	Fetal Intestine Large	intestine
31	chr1:149971600-149978600	Weak transcription	Stomach Mucosa	stomach
32	chr1:149972000-149978800	Weak transcription	NHDF-Ad	bronchial
33	chr1:149972000-149979800	Weak transcription	Left Ventricle	heart
34	chr1:149972200-149980000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:149972600-149979600	Weak transcription	HUVEC	blood vessel
36	chr1:149972800-149981600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:149973200-149978600	Enhancers	Brain Substantia Nigra	brain
38	chr1:149973600-149978800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:149973800-149978600	Weak transcription	Ovary	ovary
40	chr1:149973800-149978800	Weak transcription	Right Atrium	heart
41	chr1:149973800-149980400	Weak transcription	Aorta	Aorta
42	chr1:149974000-149978600	Weak transcription	Right Ventricle	heart
43	chr1:149974000-149978800	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:149974200-149978400	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:149974200-149979000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:149974200-149979000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:149974400-149979000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr1:149974600-149978600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:149974600-149978600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:149974600-149978800	Strong transcription	HSMM	muscle

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