Variant report

Variant	rs1175626
Chromosome Location	chr1:112959346-112959347
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:112954892..112957372-chr1:112957566..112961272,3	MCF-7	breast:
2	chr1:112951394..112954161-chr1:112958063..112960913,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143079	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1175635	1.00[AFR][1000 genomes]
rs1777617	1.00[AFR][1000 genomes]
rs2488784	1.00[AFR][1000 genomes]
rs2780270	1.00[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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112940000-112961400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:112940600-112962000	Weak transcription	Psoas Muscle	Psoas
3	chr1:112941400-112959400	Weak transcription	Brain Germinal Matrix	brain
4	chr1:112941600-112959600	Weak transcription	Fetal Brain Female	brain
5	chr1:112942400-112988200	Weak transcription	Small Intestine	intestine
6	chr1:112942600-112966400	Weak transcription	Spleen	Spleen
7	chr1:112942600-112967000	Weak transcription	Pancreas	Pancrea
8	chr1:112945000-112966400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:112946800-112960800	Weak transcription	Brain Substantia Nigra	brain
10	chr1:112946800-112970600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:112947200-112961800	Weak transcription	A549	lung
12	chr1:112947200-112961800	Weak transcription	HepG2	liver
13	chr1:112947200-112971200	Weak transcription	Aorta	Aorta
14	chr1:112947200-112981000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:112947400-112965600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:112949200-112960600	Weak transcription	Brain Angular Gyrus	brain
17	chr1:112949200-112963200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:112949200-112966400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:112950000-112960000	Weak transcription	Fetal Lung	lung
20	chr1:112950200-112959400	Weak transcription	Fetal Brain Male	brain
21	chr1:112951200-112969000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:112951600-112968800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:112952000-112969600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:112952400-112960800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:112952400-112990600	Weak transcription	Esophagus	oesophagus
26	chr1:112952600-112963400	Weak transcription	Stomach Mucosa	stomach
27	chr1:112952600-112981400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:112953800-112966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:112954400-112959800	Weak transcription	Gastric	stomach
30	chr1:112954400-112960200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:112954400-112960200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr1:112954400-112960400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:112954400-112962600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:112954400-112962600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:112954400-112962600	Strong transcription	HUVEC	blood vessel
36	chr1:112954400-112963200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:112954400-112963400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:112954400-112963800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:112954400-112964000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:112954400-112964600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:112954400-112967400	Strong transcription	Osteobl	bone
42	chr1:112954600-112960000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:112954600-112960200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:112954600-112960600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:112954600-112961600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:112954600-112961800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:112954600-112962000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:112954600-112962200	Strong transcription	NH-A	brain
49	chr1:112954600-112962800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:112954800-112960600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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