Variant report

Variant	rs2197797
Chromosome Location	chr5:118415490-118415491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118407762..118409623-chr5:118414700..118416296,2	K562	blood:
2	chr5:118405552..118407163-chr5:118413181..118416258,3	K562	blood:

Variant related genes	Relation type
ENSG00000172869	Chromatin interaction
ENSG00000249494	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10072072	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1473231	1.00[JPT][hapmap]
rs1473337	1.00[JPT][hapmap]
rs1510969	1.00[JPT][hapmap]
rs17144795	1.00[JPT][hapmap]
rs17144818	1.00[JPT][hapmap]
rs17144857	1.00[JPT][hapmap]
rs17144871	1.00[JPT][hapmap]
rs17144978	0.91[ASN][1000 genomes]
rs17145004	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17145010	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17145034	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs2055620	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2161349	1.00[JPT][hapmap]
rs3822517	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4421136	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56777416	1.00[EUR][1000 genomes]
rs58506278	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59560401	1.00[EUR][1000 genomes]
rs60943459	1.00[EUR][1000 genomes]
rs6869894	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6881087	1.00[EUR][1000 genomes]
rs73240756	1.00[EUR][1000 genomes]
rs73240769	1.00[EUR][1000 genomes]
rs73240789	1.00[EUR][1000 genomes]
rs73240798	1.00[EUR][1000 genomes]
rs73240800	1.00[EUR][1000 genomes]
rs73242924	1.00[EUR][1000 genomes]
rs73242936	1.00[EUR][1000 genomes]
rs73242938	1.00[EUR][1000 genomes]
rs73242944	1.00[EUR][1000 genomes]
rs73242969	1.00[EUR][1000 genomes]
rs73242972	1.00[EUR][1000 genomes]
rs73242978	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73242987	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73242991	1.00[EUR][1000 genomes]
rs73244806	1.00[EUR][1000 genomes]
rs73244821	1.00[EUR][1000 genomes]
rs73247063	1.00[EUR][1000 genomes]
rs7712826	1.00[EUR][1000 genomes]
rs7719887	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs976586	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3511406	chr5:118409810-118459495	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3511407	chr5:118409863-118459482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118407600-118423600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:118407800-118421600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:118407800-118456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:118408400-118451800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:118409000-118415600	Weak transcription	Left Ventricle	heart
6	chr5:118409000-118415800	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:118409000-118420400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:118409000-118424000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:118409000-118435000	Weak transcription	Lung	lung
10	chr5:118409000-118471200	Weak transcription	Gastric	stomach
11	chr5:118409200-118416000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr5:118409200-118416600	Weak transcription	Brain Angular Gyrus	brain
13	chr5:118409200-118416600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:118409200-118418000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:118409200-118419400	Weak transcription	Fetal Stomach	stomach
16	chr5:118409200-118424000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:118409400-118421000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:118409400-118435000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:118409800-118423200	Weak transcription	Fetal Intestine Large	intestine
20	chr5:118410400-118419600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:118410600-118416000	Weak transcription	Adipose Nuclei	Adipose
22	chr5:118410600-118416400	Weak transcription	Fetal Kidney	kidney
23	chr5:118410600-118418000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:118410600-118418400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:118410800-118418400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:118410800-118421200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:118411200-118435000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:118412000-118435000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr5:118412200-118415600	Enhancers	Dnd41	blood
30	chr5:118412200-118416600	Weak transcription	Brain Anterior Caudate	brain
31	chr5:118412200-118432800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr5:118412400-118424000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr5:118412400-118435000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr5:118413000-118415800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr5:118413600-118415800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr5:118413600-118416200	Flanking Active TSS	GM12878-XiMat	blood
38	chr5:118413600-118417200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr5:118413800-118415600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:118414000-118423800	Weak transcription	Liver	Liver
41	chr5:118414000-118425800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr5:118414200-118415600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:118414200-118416000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:118414200-118416000	Enhancers	Psoas Muscle	Psoas
45	chr5:118414400-118415600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:118414400-118415600	Enhancers	Fetal Thymus	thymus
47	chr5:118414400-118415600	Enhancers	Osteobl	bone
48	chr5:118414400-118415800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:118414400-118415800	Enhancers	HMEC	breast
50	chr5:118414400-118415800	Enhancers	NHEK	skin

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