Variant report

Variant	rs16856645
Chromosome Location	chr2:10923991-10923992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10918202..10921722-chr2:10922034..10926005,5	K562	blood:
2	chr2:10918360..10921313-chr2:10922011..10924317,2	MCF-7	breast:
3	chr2:10923480..10926875-chr2:10926902..10929913,3	K562	blood:

Variant related genes	Relation type
ENSG00000143882	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10185558	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10197695	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10198312	0.86[AFR][1000 genomes]
rs11489	0.83[YRI][hapmap]
rs13382264	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13382367	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4668698	1.00[MEX][hapmap]
rs60116713	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6432144	1.00[MEX][hapmap]
rs6736555	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6748808	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]
rs73170277	0.90[AFR][1000 genomes]
rs73170293	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7568342	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7574339	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7574716	0.83[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7583019	1.00[MEX][hapmap]
rs7595917	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9287723	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.87[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	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv580968	chr2:10923268-10933249	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10908600-10924400	Weak transcription	Psoas Muscle	Psoas
2	chr2:10914600-10931600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:10915600-10939800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:10915600-10950400	Weak transcription	Right Atrium	heart
5	chr2:10915800-10929000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:10916200-10939200	Strong transcription	Fetal Stomach	stomach
7	chr2:10916400-10928600	Strong transcription	Fetal Intestine Small	intestine
8	chr2:10916400-10931200	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:10916400-10931600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:10916400-10938600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:10916600-10943800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:10916800-10933800	Strong transcription	Spleen	Spleen
13	chr2:10916800-10937400	Strong transcription	Lung	lung
14	chr2:10916800-10942400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:10917000-10926600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:10917000-10930400	Strong transcription	GM12878-XiMat	blood
17	chr2:10917000-10930600	Strong transcription	NHEK	skin
18	chr2:10917000-10933600	Strong transcription	Primary T cells from cord blood	blood
19	chr2:10917000-10939400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:10917200-10925800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:10917200-10929000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr2:10917200-10931000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:10917200-10931000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:10917200-10933400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:10917200-10933400	Strong transcription	NHLF	lung
26	chr2:10917200-10934200	Strong transcription	Adipose Nuclei	Adipose
27	chr2:10917200-10937800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:10917200-10937800	Strong transcription	Thymus	Thymus
29	chr2:10917200-10939000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:10917200-10942800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:10917200-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:10917200-10943200	Strong transcription	Fetal Thymus	thymus
33	chr2:10917400-10924800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr2:10917400-10930400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr2:10917400-10941200	Strong transcription	Liver	Liver
36	chr2:10917400-10942400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr2:10917600-10930400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:10917600-10930600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:10917600-10939200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:10917600-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:10917600-10943200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:10917600-10943200	Strong transcription	Fetal Muscle Leg	muscle
43	chr2:10917800-10937800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:10917800-10942800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:10917800-10943200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:10917800-10943200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr2:10917800-10943200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:10917800-10944400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:10918000-10925800	Strong transcription	Gastric	stomach
50	chr2:10918000-10929200	Strong transcription	Colonic Mucosa	Colon

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