Variant report

Variant	rs17030229
Chromosome Location	chr1:112948944-112948945
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	chr1:112945712..112947668-chr1:112948180..112951090,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13376283	0.84[AFR][1000 genomes]
rs17030259	0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030356	0.81[AFR][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	esv1850997	chr1:112944472-112993754	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112940000-112950600	Weak transcription	Lung	lung
2	chr1:112940000-112952200	Weak transcription	Esophagus	oesophagus
3	chr1:112940000-112954400	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:112940000-112956400	Weak transcription	Left Ventricle	heart
5	chr1:112940000-112961400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:112940200-112958400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:112940600-112958800	Weak transcription	Colonic Mucosa	Colon
8	chr1:112940600-112962000	Weak transcription	Psoas Muscle	Psoas
9	chr1:112940800-112955000	Weak transcription	Adipose Nuclei	Adipose
10	chr1:112941000-112949000	Weak transcription	Fetal Lung	lung
11	chr1:112941000-112949000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:112941200-112949200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:112941200-112955000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:112941200-112955000	Weak transcription	Fetal Kidney	kidney
15	chr1:112941400-112954400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:112941400-112956400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:112941400-112959400	Weak transcription	Brain Germinal Matrix	brain
18	chr1:112941600-112959600	Weak transcription	Fetal Brain Female	brain
19	chr1:112942400-112952200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:112942400-112988200	Weak transcription	Small Intestine	intestine
21	chr1:112942600-112954800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:112942600-112955400	Weak transcription	Fetal Intestine Large	intestine
23	chr1:112942600-112966400	Weak transcription	Spleen	Spleen
24	chr1:112942600-112967000	Weak transcription	Pancreas	Pancrea
25	chr1:112943400-112949200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:112943400-112950400	Enhancers	NHDF-Ad	bronchial
27	chr1:112944600-112949000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:112944800-112959000	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:112945000-112966400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:112945200-112949800	Weak transcription	Fetal Brain Male	brain
31	chr1:112946600-112949800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:112946800-112949200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:112946800-112950200	Enhancers	HUVEC	blood vessel
34	chr1:112946800-112950200	Enhancers	Osteobl	bone
35	chr1:112946800-112952200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:112946800-112959000	Weak transcription	GM12878-XiMat	blood
37	chr1:112946800-112960800	Weak transcription	Brain Substantia Nigra	brain
38	chr1:112946800-112970600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:112947000-112949000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:112947000-112949200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:112947000-112949600	Enhancers	Stomach Mucosa	stomach
42	chr1:112947000-112954400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:112947000-112954600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:112947000-112956800	Weak transcription	Brain Anterior Caudate	brain
45	chr1:112947200-112949400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:112947200-112956600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:112947200-112958200	Weak transcription	Right Ventricle	heart
48	chr1:112947200-112959000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:112947200-112959200	Weak transcription	Ovary	ovary
50	chr1:112947200-112961800	Weak transcription	A549	lung

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