Variant report

Variant	rs55720402
Chromosome Location	chr6:5370091-5370092
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	chr6:5364063..5366771-chr6:5369592..5371297,2	K562	blood:
2	chr6:5364063..5367061-chr6:5369428..5371092,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11242997	1.00[EUR][1000 genomes]
rs11242998	1.00[EUR][1000 genomes]
rs11242999	1.00[EUR][1000 genomes]
rs13202971	1.00[EUR][1000 genomes]
rs13203250	1.00[EUR][1000 genomes]
rs13212749	1.00[EUR][1000 genomes]
rs13213703	1.00[EUR][1000 genomes]
rs13217077	1.00[EUR][1000 genomes]
rs13219584	1.00[EUR][1000 genomes]
rs13219950	1.00[EUR][1000 genomes]
rs17133271	1.00[EUR][1000 genomes]
rs17139838	1.00[EUR][1000 genomes]
rs17139841	1.00[EUR][1000 genomes]
rs17139848	1.00[EUR][1000 genomes]
rs17139851	1.00[EUR][1000 genomes]
rs17139853	1.00[EUR][1000 genomes]
rs17139856	1.00[EUR][1000 genomes]
rs17139860	1.00[EUR][1000 genomes]
rs2503820	1.00[EUR][1000 genomes]
rs34041880	1.00[EUR][1000 genomes]
rs34110180	1.00[EUR][1000 genomes]
rs34120947	1.00[EUR][1000 genomes]
rs34146318	1.00[EUR][1000 genomes]
rs34170037	1.00[EUR][1000 genomes]
rs34211615	1.00[EUR][1000 genomes]
rs34265509	1.00[EUR][1000 genomes]
rs34421021	1.00[EUR][1000 genomes]
rs34440991	1.00[EUR][1000 genomes]
rs34449449	1.00[EUR][1000 genomes]
rs34512910	1.00[EUR][1000 genomes]
rs34711553	1.00[EUR][1000 genomes]
rs34713043	1.00[EUR][1000 genomes]
rs34903116	1.00[EUR][1000 genomes]
rs34908251	1.00[EUR][1000 genomes]
rs34968006	1.00[EUR][1000 genomes]
rs34968842	1.00[EUR][1000 genomes]
rs35039476	1.00[EUR][1000 genomes]
rs35073344	1.00[EUR][1000 genomes]
rs35218696	1.00[EUR][1000 genomes]
rs35277899	1.00[EUR][1000 genomes]
rs35324863	1.00[EUR][1000 genomes]
rs35525232	1.00[EUR][1000 genomes]
rs35587351	1.00[EUR][1000 genomes]
rs35864979	1.00[EUR][1000 genomes]
rs35869391	1.00[EUR][1000 genomes]
rs36007403	1.00[EUR][1000 genomes]
rs36010137	1.00[EUR][1000 genomes]
rs36018728	1.00[EUR][1000 genomes]
rs56034435	1.00[EUR][1000 genomes]
rs56343430	1.00[EUR][1000 genomes]
rs58508775	1.00[EUR][1000 genomes]
rs59994371	1.00[EUR][1000 genomes]
rs60890075	1.00[EUR][1000 genomes]
rs61089858	1.00[EUR][1000 genomes]
rs6901286	1.00[EUR][1000 genomes]
rs6921627	1.00[EUR][1000 genomes]
rs6935667	1.00[EUR][1000 genomes]
rs6935687	1.00[EUR][1000 genomes]
rs71555883	1.00[EUR][1000 genomes]
rs71555885	1.00[EUR][1000 genomes]
rs71555886	1.00[EUR][1000 genomes]
rs71557549	1.00[EUR][1000 genomes]
rs71557550	1.00[EUR][1000 genomes]
rs71557551	1.00[EUR][1000 genomes]
rs73718006	1.00[EUR][1000 genomes]
rs73718008	1.00[EUR][1000 genomes]
rs73718010	1.00[EUR][1000 genomes]
rs73718012	1.00[EUR][1000 genomes]
rs73719741	1.00[EUR][1000 genomes]
rs73719743	1.00[EUR][1000 genomes]
rs73719759	1.00[EUR][1000 genomes]
rs73719775	1.00[EUR][1000 genomes]
rs73719776	1.00[EUR][1000 genomes]
rs7744301	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
7	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1029609	chr6:5187633-5397254	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1035080	chr6:5206533-5396019	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv538116	chr6:5206533-5396019	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv830578	chr6:5264086-5455570	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1022738	chr6:5298362-5411645	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv600883	chr6:5302619-5400658	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv883417	chr6:5307432-5431340	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv883418	chr6:5307432-5501389	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1015643	chr6:5311590-5452427	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv883419	chr6:5316399-5400658	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv1030744	chr6:5328012-5458222	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv600884	chr6:5338955-5394992	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5326600-5385000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:5334800-5371000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:5337800-5380800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:5354600-5379600	Weak transcription	GM12878-XiMat	blood
5	chr6:5360200-5371000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:5362000-5370800	Weak transcription	Colonic Mucosa	Colon
7	chr6:5362200-5371200	Weak transcription	Brain Substantia Nigra	brain
8	chr6:5362200-5372000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:5362400-5375200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:5362400-5384600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:5366400-5372200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:5366600-5375400	Weak transcription	Brain Angular Gyrus	brain
13	chr6:5367000-5378600	Weak transcription	K562	blood
14	chr6:5367200-5386000	Weak transcription	Fetal Brain Female	brain
15	chr6:5367400-5371600	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:5367400-5372400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr6:5367400-5379800	Weak transcription	HSMMtube	muscle
18	chr6:5367800-5370200	Weak transcription	HSMM	muscle
19	chr6:5367800-5371000	Weak transcription	Brain Anterior Caudate	brain
20	chr6:5367800-5371200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:5368000-5375000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:5368000-5378400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:5368400-5398600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:5368600-5370200	Strong transcription	HepG2	liver
25	chr6:5368600-5370400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr6:5368600-5370600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr6:5368600-5371400	Strong transcription	Primary T cells from cord blood	blood
28	chr6:5368600-5371400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr6:5368600-5374400	Strong transcription	Primary B cells from cord blood	blood
30	chr6:5368800-5370400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:5368800-5370600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:5368800-5370600	Strong transcription	Adipose Nuclei	Adipose
33	chr6:5368800-5370600	Strong transcription	Brain Hippocampus Middle	brain
34	chr6:5368800-5371400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:5368800-5371400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:5368800-5378400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:5369000-5370600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr6:5369000-5371400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:5369000-5371600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr6:5369200-5370400	Strong transcription	Liver	Liver
41	chr6:5369400-5370800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:5369400-5371600	Weak transcription	Fetal Lung	lung
43	chr6:5369400-5372200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:5369400-5373000	Weak transcription	Esophagus	oesophagus
45	chr6:5369400-5375000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr6:5369400-5378200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:5369400-5380200	Weak transcription	Pancreas	Pancrea
48	chr6:5369400-5384600	Weak transcription	Lung	lung
49	chr6:5369400-5419800	Weak transcription	Aorta	Aorta
50	chr6:5369600-5370800	Weak transcription	Ovary	ovary

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