Variant report

Variant	rs533216182
Chromosome Location	chr1:174368185-174368186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174367483..174370019-chr1:174372739..174376540,3	K562	blood:
2	chr1:174367483..174370019-chr1:174373894..174376540,2	K562	blood:
3	chr1:174361556..174363386-chr1:174366777..174369174,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv872553	chr1:174195629-174373379	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1010069	chr1:174215293-174539512	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv872555	chr1:174343705-174565720	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv1003113	chr1:174367687-174499155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv535209	chr1:174367687-174499155	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174318800-174369800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:174325800-174382800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:174341800-174372200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:174351000-174369000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:174353000-174382600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:174353600-174372000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:174357800-174375000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:174358600-174368400	Weak transcription	Thymus	Thymus
9	chr1:174359400-174369200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:174360000-174370800	Weak transcription	Pancreas	Pancrea
11	chr1:174360000-174383000	Weak transcription	Right Atrium	heart
12	chr1:174360200-174370200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:174361200-174369000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:174361400-174375600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:174361600-174382800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:174361800-174370000	Weak transcription	K562	blood
17	chr1:174363000-174375800	Weak transcription	NHDF-Ad	bronchial
18	chr1:174363200-174374000	Weak transcription	Esophagus	oesophagus
19	chr1:174363200-174382800	Weak transcription	Left Ventricle	heart
20	chr1:174363400-174368600	Weak transcription	Ovary	ovary
21	chr1:174363400-174372800	Weak transcription	Lung	lung
22	chr1:174363400-174375800	Weak transcription	Gastric	stomach
23	chr1:174363600-174369400	Weak transcription	Dnd41	blood
24	chr1:174363800-174368200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:174364000-174368200	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:174364400-174374000	Weak transcription	Fetal Intestine Large	intestine
27	chr1:174365200-174371000	Weak transcription	Right Ventricle	heart
28	chr1:174365600-174374600	Weak transcription	Liver	Liver
29	chr1:174366000-174368600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:174366200-174369600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr1:174366400-174368400	ZNF genes & repeats	GM12878-XiMat	blood
32	chr1:174366400-174368600	Enhancers	NH-A	brain
33	chr1:174366400-174368800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:174366600-174371200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr1:174366800-174369600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:174366800-174369600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:174367000-174368600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:174367000-174382800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:174367400-174368600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:174367400-174371000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:174367400-174371000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:174367400-174373000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:174367600-174369200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:174367600-174369200	Weak transcription	Aorta	Aorta
45	chr1:174367600-174369400	Weak transcription	Adipose Nuclei	Adipose
46	chr1:174367600-174369400	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:174367600-174370200	Weak transcription	Primary T cells from cord blood	blood
48	chr1:174367600-174370600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:174367600-174371800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:174367600-174371800	Weak transcription	Fetal Stomach	stomach

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