Variant report

Variant	rs559074196
Chromosome Location	chr1:209817688-209817689
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv2762140	chr1:209816331-209830347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209801600-209818000	Weak transcription	Spleen	Spleen
2	chr1:209801600-209819800	Weak transcription	Lung	lung
3	chr1:209814200-209821400	Enhancers	Fetal Muscle Trunk	muscle
4	chr1:209814200-209825000	Enhancers	Fetal Muscle Leg	muscle
5	chr1:209814400-209818600	Enhancers	Fetal Stomach	stomach
6	chr1:209814400-209823200	Genic enhancers	Fetal Intestine Large	intestine
7	chr1:209814600-209817800	Enhancers	Brain Anterior Caudate	brain
8	chr1:209814600-209817800	Enhancers	Brain Hippocampus Middle	brain
9	chr1:209814600-209817800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:209814600-209818000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:209814600-209818200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:209814600-209818200	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:209814600-209818200	Enhancers	Brain Substantia Nigra	brain
14	chr1:209814600-209818200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:209814600-209818600	Enhancers	Ovary	ovary
16	chr1:209814600-209818800	Enhancers	Fetal Kidney	kidney
17	chr1:209814600-209820600	Enhancers	Adipose Nuclei	Adipose
18	chr1:209814600-209820800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:209814600-209822400	Genic enhancers	Fetal Intestine Small	intestine
20	chr1:209814600-209823200	Enhancers	Fetal Heart	heart
21	chr1:209814600-209826800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:209814800-209817800	Enhancers	Brain Angular Gyrus	brain
23	chr1:209814800-209818400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:209814800-209818400	Enhancers	Left Ventricle	heart
25	chr1:209814800-209818400	Enhancers	Psoas Muscle	Psoas
26	chr1:209814800-209819400	Enhancers	Brain Germinal Matrix	brain
27	chr1:209814800-209819400	Strong transcription	Hela-S3	cervix
28	chr1:209814800-209820400	Enhancers	Placenta	Placenta
29	chr1:209814800-209821000	Enhancers	Fetal Brain Male	brain
30	chr1:209815200-209818000	Enhancers	Colon Smooth Muscle	Colon
31	chr1:209815200-209818000	Enhancers	Stomach Smooth Muscle	stomach
32	chr1:209815200-209818400	Enhancers	Rectal Smooth Muscle	rectum
33	chr1:209815200-209819200	Enhancers	Fetal Lung	lung
34	chr1:209815200-209820400	Weak transcription	Gastric	stomach
35	chr1:209815400-209819000	Weak transcription	HSMM	muscle
36	chr1:209815400-209819200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:209815400-209819400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:209815400-209819800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:209815800-209818000	Enhancers	Liver	Liver
40	chr1:209815800-209821800	Weak transcription	HUVEC	blood vessel
41	chr1:209816000-209818200	Enhancers	Pancreas	Pancrea
42	chr1:209816000-209819000	Enhancers	K562	blood
43	chr1:209816000-209820800	Enhancers	Fetal Thymus	thymus
44	chr1:209816000-209824200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
45	chr1:209816200-209819200	Genic enhancers	NHEK	skin
46	chr1:209816200-209820800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:209816200-209821600	Enhancers	Right Ventricle	heart
48	chr1:209816400-209820000	Enhancers	Fetal Brain Female	brain
49	chr1:209817000-209818600	Enhancers	Right Atrium	heart
50	chr1:209817000-209819200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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