Variant report

Variant	rs541013952
Chromosome Location	chr1:114268236-114268237
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	chr1:114255171..114257504-chr1:114268146..114270647,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSBN1-3	chr1:114268147-114268477	ucscGeneNc_uc001eek_2

Variant related genes	Relation type
ENSG00000116793	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2179916	chr1:114266767-114271334	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
2	chr1:114216200-114279800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:114228000-114287800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:114236400-114300000	Weak transcription	Small Intestine	intestine
5	chr1:114239200-114279800	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:114240200-114279400	Weak transcription	Psoas Muscle	Psoas
7	chr1:114242000-114300000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:114242800-114269800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:114245400-114270800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:114245400-114275000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:114245600-114300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:114248800-114290200	Weak transcription	HMEC	breast
13	chr1:114251000-114291400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:114253000-114279400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:114253000-114279600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:114254000-114272200	Weak transcription	HSMMtube	muscle
17	chr1:114254600-114277000	Weak transcription	Adipose Nuclei	Adipose
18	chr1:114254800-114271800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:114256600-114283600	Weak transcription	Brain Anterior Caudate	brain
20	chr1:114256600-114288800	Weak transcription	K562	blood
21	chr1:114256800-114277200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:114257600-114283000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:114257600-114296200	Weak transcription	Pancreas	Pancrea
24	chr1:114258000-114300000	Weak transcription	Right Ventricle	heart
25	chr1:114261000-114269200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:114261400-114271400	Weak transcription	Thymus	Thymus
27	chr1:114261400-114277200	Weak transcription	HepG2	liver
28	chr1:114261400-114279000	Weak transcription	Spleen	Spleen
29	chr1:114261400-114300000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:114261400-114300600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:114261400-114301000	Weak transcription	Lung	lung
32	chr1:114261600-114269200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:114261600-114272200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:114261600-114280200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:114261600-114300200	Weak transcription	Brain Angular Gyrus	brain
36	chr1:114261600-114300600	Weak transcription	Aorta	Aorta
37	chr1:114261600-114300600	Weak transcription	Esophagus	oesophagus
38	chr1:114261600-114300600	Weak transcription	Gastric	stomach
39	chr1:114262000-114272000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:114262000-114286400	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:114263600-114285400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:114263600-114300000	Weak transcription	Fetal Lung	lung
43	chr1:114263600-114300400	Weak transcription	Fetal Intestine Large	intestine
44	chr1:114263800-114270000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:114263800-114274000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:114263800-114277200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:114263800-114279200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:114263800-114279200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:114263800-114279800	Weak transcription	Brain Germinal Matrix	brain
50	chr1:114264000-114272000	Weak transcription	Primary B cells from cord blood	blood

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