Variant report

Variant	rs4513341
Chromosome Location	chr2:99281535-99281536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99224920..99227035-chr2:99281074..99283307,2	K562	blood:

Variant related genes	Relation type
ENSG00000183513	Chromatin interaction
ENSG00000115446	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10189698	0.82[EUR][1000 genomes]
rs11123746	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12468113	0.82[EUR][1000 genomes]
rs12613547	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12613577	0.82[EUR][1000 genomes]
rs1514914	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1599828	0.82[EUR][1000 genomes]
rs2063780	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2271670	0.82[EUR][1000 genomes]
rs2309432	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2309433	0.81[EUR][1000 genomes]
rs2871234	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34457904	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34622150	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3754870	0.82[EUR][1000 genomes]
rs3769691	0.82[EUR][1000 genomes]
rs4508652	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542835	0.82[EUR][1000 genomes]
rs6750281	0.95[EUR][1000 genomes]
rs7557647	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9308813	0.81[EUR][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	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv582516	chr2:99254031-99304794	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99231200-99286200	Weak transcription	Stomach Mucosa	stomach
2	chr2:99234600-99310600	Weak transcription	Small Intestine	intestine
3	chr2:99234800-99296400	Weak transcription	Esophagus	oesophagus
4	chr2:99249800-99318000	Weak transcription	Psoas Muscle	Psoas
5	chr2:99251400-99295600	Weak transcription	Fetal Stomach	stomach
6	chr2:99251600-99302000	Weak transcription	Brain Angular Gyrus	brain
7	chr2:99251600-99306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:99253200-99293000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:99255600-99306800	Weak transcription	Colonic Mucosa	Colon
10	chr2:99256400-99296000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:99259000-99281800	Weak transcription	Left Ventricle	heart
12	chr2:99260000-99288000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:99260600-99290400	Weak transcription	Liver	Liver
14	chr2:99260600-99290800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:99264600-99299000	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:99265200-99291800	Weak transcription	Placenta	Placenta
17	chr2:99265400-99290800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:99265600-99306600	Weak transcription	Lung	lung
19	chr2:99265800-99303800	Weak transcription	Brain Substantia Nigra	brain
20	chr2:99266200-99290400	Weak transcription	Adipose Nuclei	Adipose
21	chr2:99266200-99296200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:99266400-99304200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:99267600-99284200	Weak transcription	Fetal Intestine Small	intestine
24	chr2:99270600-99293800	Strong transcription	HepG2	liver
25	chr2:99271800-99288800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:99271800-99289400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:99272200-99289000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:99273600-99294600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:99276000-99285800	Weak transcription	Pancreas	Pancrea
30	chr2:99276000-99301400	Weak transcription	Aorta	Aorta
31	chr2:99276200-99284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:99277600-99291000	Weak transcription	Brain Anterior Caudate	brain
33	chr2:99277600-99291200	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:99277800-99287400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:99278000-99296200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:99278200-99290400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:99278600-99281800	Weak transcription	Fetal Intestine Large	intestine
38	chr2:99279200-99282200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:99279200-99286400	Weak transcription	HUVEC	blood vessel
40	chr2:99279200-99302200	Weak transcription	Right Ventricle	heart
41	chr2:99279400-99281600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:99279400-99281800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:99279400-99284800	Weak transcription	Thymus	Thymus
44	chr2:99280200-99281600	Enhancers	HMEC	breast
45	chr2:99280400-99281800	Enhancers	Fetal Thymus	thymus
46	chr2:99280600-99281800	Enhancers	Primary B cells from cord blood	blood
47	chr2:99280600-99281800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:99280600-99282800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr2:99280600-99283400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr2:99280600-99292200	Strong transcription	Duodenum Mucosa	Duodenum

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