Variant report

Variant	rs41306191
Chromosome Location	chr1:113134338-113134339
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113133844..113136355-chr1:113152483..113154108,2	MCF-7	breast:
2	chr1:113133172..113139000-chr1:113157141..113162123,6	K562	blood:
3	chr1:113132347..113134922-chr1:113161214..113163923,3	MCF-7	breast:
4	chr1:113094155..113095873-chr1:113133384..113135502,2	K562	blood:
5	chr1:113130536..113134604-chr1:113155962..113159992,5	K562	blood:

Variant related genes	Relation type
ENSG00000116489	Chromatin interaction
ENSG00000007341	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11102493	1.00[EUR][1000 genomes]
rs12092350	1.00[EUR][1000 genomes]
rs41283054	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41283058	1.00[EUR][1000 genomes]
rs45491991	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45626331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55664948	1.00[AMR][1000 genomes]
rs72982508	1.00[EUR][1000 genomes]
rs7538730	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	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
5	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113084800-113137000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:113092000-113151200	Weak transcription	Colonic Mucosa	Colon
3	chr1:113109000-113160000	Weak transcription	Gastric	stomach
4	chr1:113109200-113152600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:113111800-113138800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:113115400-113154200	Weak transcription	Esophagus	oesophagus
7	chr1:113115800-113160000	Weak transcription	Small Intestine	intestine
8	chr1:113116400-113160000	Weak transcription	Spleen	Spleen
9	chr1:113118000-113160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:113118800-113160400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:113119000-113138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:113121000-113148400	Weak transcription	Stomach Mucosa	stomach
13	chr1:113124600-113148400	Weak transcription	NHLF	lung
14	chr1:113125000-113142000	Weak transcription	Hela-S3	cervix
15	chr1:113126800-113143400	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:113128000-113148400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:113129000-113147200	Strong transcription	HSMM	muscle
18	chr1:113129600-113159000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:113130200-113141000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:113131200-113137400	Strong transcription	Placenta	Placenta
21	chr1:113131400-113160000	Weak transcription	Fetal Heart	heart
22	chr1:113131600-113147200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:113132200-113134400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:113132400-113135200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:113132400-113136600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:113132600-113136800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:113132600-113139800	Weak transcription	NHEK	skin
28	chr1:113132600-113148400	Weak transcription	Lung	lung
29	chr1:113132600-113148400	Weak transcription	Pancreas	Pancrea
30	chr1:113132600-113148400	Weak transcription	Thymus	Thymus
31	chr1:113132600-113152400	Weak transcription	Psoas Muscle	Psoas
32	chr1:113132600-113154800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:113132600-113159800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:113132800-113134400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:113132800-113135000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr1:113132800-113135800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:113132800-113136000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:113132800-113139400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:113132800-113140000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:113132800-113143400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:113132800-113144200	Weak transcription	Right Ventricle	heart
42	chr1:113132800-113145400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:113133000-113135200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:113133000-113136800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:113133000-113137000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:113133000-113137200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:113133000-113137600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:113133000-113137600	Weak transcription	Fetal Intestine Small	intestine
49	chr1:113133000-113137800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:113133000-113138000	Weak transcription	Left Ventricle	heart

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