Variant report

Variant	rs2108311
Chromosome Location	chr7:21392093-21392094
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12667180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12667518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12672762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17144165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17144175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17144266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17144289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17144309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17144314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17144318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1987514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34111257	1.00[AMR][1000 genomes]
rs4719659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4721989	1.00[AMR][1000 genomes]
rs4721990	1.00[AMR][1000 genomes]
rs58578432	1.00[AMR][1000 genomes]
rs60488575	1.00[AMR][1000 genomes]
rs6970515	1.00[EUR][1000 genomes]
rs6980287	1.00[EUR][1000 genomes]
rs73682328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685049	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3478244	chr7:21044211-21417347	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3478245	chr7:21044211-21417347	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1016705	chr7:21257416-21450943	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21390200-21394800	Weak transcription	K562	blood
2	chr7:21391200-21392200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr7:21391200-21394200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:21391200-21398600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:21391200-21399000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:21391400-21392400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr7:21391600-21392200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:21391600-21397200	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:21391800-21392200	Enhancers	Primary T cells from cord blood	blood
10	chr7:21391800-21392200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr7:21391800-21392200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr7:21391800-21392200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr7:21391800-21392200	Enhancers	Colon Smooth Muscle	Colon
14	chr7:21391800-21392200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr7:21391800-21392200	Flanking Active TSS	GM12878-XiMat	blood
16	chr7:21391800-21392600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr7:21391800-21393200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:21391800-21395200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:21391800-21397800	Enhancers	Fetal Thymus	thymus
20	chr7:21392000-21392200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:21392000-21392400	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr7:21392000-21392400	Active TSS	Colonic Mucosa	Colon
23	chr7:21392000-21392400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr7:21392000-21392600	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr7:21392000-21392800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr7:21392000-21392800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:21392000-21393000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr7:21392000-21393000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:21392000-21393000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr7:21392000-21393000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:21392000-21393000	Enhancers	Stomach Mucosa	stomach
32	chr7:21392000-21393400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr7:21392000-21393600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr7:21392000-21397800	Enhancers	Thymus	Thymus

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