Variant report

Variant	rs4968308
Chromosome Location	chr17:45278007-45278008
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45276997..45278659-chr17:45285580..45287294,2	K562	blood:

Variant related genes	Relation type
ENSG00000198336	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1102461	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11079762	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11079763	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1634269	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap]
rs221596	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs221603	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs221604	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs221605	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs221607	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2678693	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap]
rs6504744	0.82[ASN][1000 genomes]
rs8073936	0.81[ASN][1000 genomes]
rs858671	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs858675	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs858680	0.82[ASN][1000 genomes]
rs9747171	0.81[ASN][1000 genomes]
rs9894365	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45268400-45281000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:45270600-45281200	Weak transcription	Spleen	Spleen
3	chr17:45274800-45282200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:45276000-45281000	Weak transcription	HSMMtube	muscle
5	chr17:45276200-45280400	Weak transcription	Fetal Muscle Leg	muscle
6	chr17:45276400-45281000	Weak transcription	HSMM	muscle
7	chr17:45276800-45278200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:45276800-45278200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr17:45276800-45278200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr17:45276800-45278200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:45276800-45278200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:45277000-45278200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr17:45277200-45278200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr17:45277200-45278200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:45277200-45278200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr17:45277200-45278200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr17:45277200-45278200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:45277200-45278200	Enhancers	Adipose Nuclei	Adipose
19	chr17:45277200-45278200	Enhancers	Duodenum Mucosa	Duodenum
20	chr17:45277200-45278200	Enhancers	Fetal Thymus	thymus
21	chr17:45277200-45278200	Enhancers	K562	blood
22	chr17:45277200-45278400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr17:45277400-45278200	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr17:45277400-45278200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:45277400-45278200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr17:45277400-45278200	Flanking Active TSS	GM12878-XiMat	blood
27	chr17:45277800-45278200	Enhancers	Primary T cells from cord blood	blood
28	chr17:45277800-45279000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:45277800-45279200	Enhancers	Fetal Intestine Small	intestine
30	chr17:45277800-45279200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr17:45277800-45279400	Enhancers	Fetal Intestine Large	intestine
32	chr17:45277800-45281000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:45277800-45281000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:45278000-45278200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr17:45278000-45278200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr17:45278000-45278200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr17:45278000-45278200	Enhancers	Colonic Mucosa	Colon
38	chr17:45278000-45278200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr17:45278000-45278200	Enhancers	Stomach Mucosa	stomach
40	chr17:45278000-45278800	Enhancers	Liver	Liver
41	chr17:45278000-45279000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr17:45278000-45279000	Enhancers	Primary B cells from peripheral blood	blood
43	chr17:45278000-45279000	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr17:45278000-45281000	Weak transcription	Primary T cells fromperipheralblood	blood

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