Variant report

Variant	rs36030071
Chromosome Location	chr5:61785240-61785241
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	chr5:61782970..61785454-chr5:61790224..61793065,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs13181266	0.91[AMR][1000 genomes]
rs153869	0.96[EUR][1000 genomes]
rs173530	0.96[EUR][1000 genomes]
rs17382217	0.83[AMR][1000 genomes]
rs181784	0.96[EUR][1000 genomes]
rs187624	0.82[EUR][1000 genomes]
rs190445	0.82[EUR][1000 genomes]
rs2441115	0.96[EUR][1000 genomes]
rs2463079	0.96[EUR][1000 genomes]
rs247477	0.96[EUR][1000 genomes]
rs247480	0.96[EUR][1000 genomes]
rs247481	0.96[EUR][1000 genomes]
rs247484	0.93[EUR][1000 genomes]
rs255391	0.89[EUR][1000 genomes]
rs26619	0.96[EUR][1000 genomes]
rs26620	0.96[EUR][1000 genomes]
rs26626	0.89[EUR][1000 genomes]
rs26627	0.89[EUR][1000 genomes]
rs32047	0.93[EUR][1000 genomes]
rs32053	0.82[EUR][1000 genomes]
rs32149	0.82[EUR][1000 genomes]
rs32151	0.82[EUR][1000 genomes]
rs32152	0.82[EUR][1000 genomes]
rs32153	0.82[EUR][1000 genomes]
rs32156	0.82[EUR][1000 genomes]
rs32159	0.82[EUR][1000 genomes]
rs32162	0.82[EUR][1000 genomes]
rs32165	0.81[EUR][1000 genomes]
rs32167	0.82[EUR][1000 genomes]
rs32169	0.82[EUR][1000 genomes]
rs32170	0.82[EUR][1000 genomes]
rs32172	0.82[EUR][1000 genomes]
rs32173	0.82[EUR][1000 genomes]
rs32176	0.82[EUR][1000 genomes]
rs32177	0.82[EUR][1000 genomes]
rs32178	0.82[EUR][1000 genomes]
rs32180	0.82[EUR][1000 genomes]
rs32183	0.82[EUR][1000 genomes]
rs32184	0.82[EUR][1000 genomes]
rs32185	0.82[EUR][1000 genomes]
rs32189	0.82[EUR][1000 genomes]
rs34496659	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35011	0.96[EUR][1000 genomes]
rs35012	0.96[EUR][1000 genomes]
rs40290	0.82[EUR][1000 genomes]
rs40404	0.82[EUR][1000 genomes]
rs785665	0.96[EUR][1000 genomes]
rs785666	0.91[EUR][1000 genomes]
rs785667	0.91[EUR][1000 genomes]
rs814169	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv881729	chr5:61719506-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv881730	chr5:61750667-61883581	Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61709800-61809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr5:61728400-61807600	Weak transcription	Psoas Muscle	Psoas
3	chr5:61728800-61838200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:61730000-61834200	Weak transcription	Gastric	stomach
5	chr5:61732800-61805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:61739200-61862800	Weak transcription	Brain Substantia Nigra	brain
7	chr5:61739600-61787800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:61744800-61838600	Weak transcription	Colonic Mucosa	Colon
9	chr5:61748000-61794600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:61748000-61862800	Weak transcription	Right Ventricle	heart
11	chr5:61748600-61787000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:61749000-61786200	Weak transcription	Brain Anterior Caudate	brain
13	chr5:61750600-61786000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:61757600-61792200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:61758800-61890000	Weak transcription	Small Intestine	intestine
16	chr5:61759000-61834200	Weak transcription	Esophagus	oesophagus
17	chr5:61759800-61790000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:61760800-61847200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:61763400-61799400	Weak transcription	Fetal Heart	heart
20	chr5:61763800-61809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:61764000-61833800	Weak transcription	Fetal Brain Female	brain
22	chr5:61764000-61858200	Weak transcription	Placenta	Placenta
23	chr5:61764200-61786200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:61764200-61786200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:61764200-61787000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:61764200-61794800	Weak transcription	Left Ventricle	heart
27	chr5:61764200-61796400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:61764200-61798800	Weak transcription	Spleen	Spleen
29	chr5:61764200-61818000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:61764200-61821200	Weak transcription	Aorta	Aorta
31	chr5:61764200-61826600	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:61764200-61827000	Weak transcription	Thymus	Thymus
33	chr5:61764200-61830000	Weak transcription	Brain Angular Gyrus	brain
34	chr5:61764200-61895800	Weak transcription	Pancreas	Pancrea
35	chr5:61764400-61792400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:61764400-61796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:61764400-61801200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:61764800-61786200	Weak transcription	Fetal Kidney	kidney
39	chr5:61765200-61793200	Weak transcription	Fetal Lung	lung
40	chr5:61765200-61794600	Weak transcription	HepG2	liver
41	chr5:61765600-61794600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:61765600-61794800	Weak transcription	GM12878-XiMat	blood
43	chr5:61766000-61788000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr5:61766200-61849800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:61766400-61785400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr5:61767000-61787200	Weak transcription	Fetal Thymus	thymus
47	chr5:61771000-61786000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:61771000-61786600	Weak transcription	Fetal Intestine Large	intestine
49	chr5:61771200-61792600	Weak transcription	Fetal Muscle Leg	muscle
50	chr5:61771200-61864800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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