Variant report

Variant	rs41268719
Chromosome Location	chr1:226175904-226175905
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	chr1:226068405..226071577-chr1:226174074..226177325,3	K562	blood:
2	chr1:226111562..226114473-chr1:226173046..226176459,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143811	Chromatin interaction
ENSG00000196187	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs74148406	1.00[EUR][1000 genomes]
rs7549443	1.00[EUR][1000 genomes]

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	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226129600-226185600	Weak transcription	Right Atrium	heart
2	chr1:226163800-226178800	Weak transcription	Right Ventricle	heart
3	chr1:226164400-226179000	Weak transcription	Small Intestine	intestine
4	chr1:226164600-226182800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:226164600-226183000	Strong transcription	Placenta	Placenta
6	chr1:226165000-226178800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:226165000-226183600	Strong transcription	Adipose Nuclei	Adipose
8	chr1:226165000-226186000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:226165200-226183200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:226165200-226183400	Strong transcription	Osteobl	bone
11	chr1:226165400-226176800	Strong transcription	HSMM	muscle
12	chr1:226165400-226182400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:226165400-226183000	Strong transcription	Liver	Liver
14	chr1:226165400-226183000	Strong transcription	Left Ventricle	heart
15	chr1:226165400-226183400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:226165400-226183400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr1:226165400-226183800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:226165600-226184400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:226166000-226178600	Weak transcription	Fetal Brain Male	brain
20	chr1:226166400-226176200	Strong transcription	Fetal Lung	lung
21	chr1:226167000-226177400	Weak transcription	Pancreas	Pancrea
22	chr1:226167000-226179600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:226167000-226185000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:226167200-226176000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:226167200-226176000	Strong transcription	Fetal Kidney	kidney
26	chr1:226167400-226176000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:226167400-226176000	Strong transcription	HUVEC	blood vessel
28	chr1:226167400-226176200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:226167400-226176200	Strong transcription	Brain Hippocampus Middle	brain
30	chr1:226167400-226176400	Strong transcription	Dnd41	blood
31	chr1:226167400-226182400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:226167400-226183600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:226167600-226183000	Strong transcription	NH-A	brain
34	chr1:226167600-226183200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:226167800-226183200	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:226168600-226178400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:226168600-226183200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr1:226169000-226176000	Strong transcription	Hela-S3	cervix
39	chr1:226169000-226176400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:226169200-226183600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:226169400-226178800	Weak transcription	Fetal Heart	heart
42	chr1:226169800-226183200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:226169800-226183600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:226169800-226183600	Weak transcription	Stomach Mucosa	stomach
45	chr1:226170000-226183000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:226170000-226183600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:226170000-226183800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:226170000-226185800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:226170200-226178800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:226170200-226179000	Strong transcription	Fetal Thymus	thymus

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