Variant report

Variant	rs72982508
Chromosome Location	chr1:113116129-113116130
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	chr1:113110138..113112430-chr1:113114535..113117003,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11102493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12092350	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41283058	1.00[EUR][1000 genomes]
rs41306191	1.00[EUR][1000 genomes]
rs45626331	1.00[EUR][1000 genomes]
rs7538730	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv432631	chr1:113071834-113200797	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113058800-113119400	Weak transcription	HepG2	liver
2	chr1:113060200-113132400	Weak transcription	Pancreas	Pancrea
3	chr1:113062400-113117400	Weak transcription	Psoas Muscle	Psoas
4	chr1:113064400-113132200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:113066000-113132200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:113067000-113117400	Weak transcription	Fetal Thymus	thymus
7	chr1:113070400-113120600	Weak transcription	Right Ventricle	heart
8	chr1:113070600-113117800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:113070600-113120200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:113070600-113132400	Weak transcription	Aorta	Aorta
11	chr1:113080200-113117800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:113080800-113117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:113081200-113132200	Weak transcription	Primary B cells from cord blood	blood
14	chr1:113081400-113132400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:113081800-113132200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:113082000-113117400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:113082200-113118000	Weak transcription	Lung	lung
18	chr1:113083200-113123200	Weak transcription	Right Atrium	heart
19	chr1:113083600-113117400	Weak transcription	Brain Angular Gyrus	brain
20	chr1:113084000-113131400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:113084200-113117400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:113084200-113117400	Weak transcription	Brain Germinal Matrix	brain
23	chr1:113084200-113118000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:113084600-113120600	Weak transcription	Ovary	ovary
25	chr1:113084800-113137000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:113087600-113125800	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:113088400-113132200	Weak transcription	HMEC	breast
28	chr1:113088800-113117400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:113088800-113118000	Weak transcription	NHEK	skin
30	chr1:113089600-113117800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:113089800-113120400	Weak transcription	Stomach Mucosa	stomach
32	chr1:113091200-113117400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:113092000-113118000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:113092000-113151200	Weak transcription	Colonic Mucosa	Colon
35	chr1:113100400-113117800	Weak transcription	K562	blood
36	chr1:113100600-113117800	Weak transcription	A549	lung
37	chr1:113100600-113117800	Weak transcription	HSMMtube	muscle
38	chr1:113100600-113120400	Weak transcription	Fetal Heart	heart
39	chr1:113100600-113120400	Weak transcription	NHLF	lung
40	chr1:113101600-113118000	Weak transcription	NHDF-Ad	bronchial
41	chr1:113103000-113118000	Weak transcription	Brain Substantia Nigra	brain
42	chr1:113103400-113117200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:113105400-113129800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:113106200-113117800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:113108200-113117400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:113109000-113123000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:113109000-113160000	Weak transcription	Gastric	stomach
48	chr1:113109200-113118000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:113109200-113152600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:113109400-113118800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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