Variant report

Variant	rs13229243
Chromosome Location	chr7:101541714-101541715
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101541469..101544345-chr7:101547071..101549118,2	MCF-7	breast:
2	chr7:101540323..101541951-chr7:101544080..101545637,2	MCF-7	breast:
3	chr7:101535633..101539111-chr7:101541192..101544235,3	MCF-7	breast:
4	chr7:101540840..101542361-chr7:101651553..101653872,2	MCF-7	breast:
5	chr7:101541658..101544389-chr7:101544721..101546512,2	K562	blood:
6	chr7:101534473..101537289-chr7:101541680..101543793,2	K562	blood:
7	chr7:101498433..101500153-chr7:101541432..101543362,2	K562	blood:
8	chr7:101528248..101529991-chr7:101540450..101543058,2	K562	blood:

No data

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10081174	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226289	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10227516	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10240601	0.99[EUR][1000 genomes]
rs10241905	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10242019	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10255356	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10256232	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10259103	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259964	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10261524	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10264844	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10264855	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10264866	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10271171	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10271610	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10271838	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279763	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532535	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12534641	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539310	0.82[AMR][1000 genomes]
rs13227531	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13236072	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13241079	0.81[ASN][1000 genomes]
rs13241252	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2410921	0.88[ASN][1000 genomes]
rs28409703	0.87[ASN][1000 genomes]
rs34750675	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35065711	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4729759	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4729760	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55824493	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60656667	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72603509	0.82[AMR][1000 genomes]
rs72603510	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72603511	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72603512	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9656073	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101523200-101543200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:101526400-101542200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:101526800-101543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:101527000-101543000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:101527000-101543000	Weak transcription	NHEK	skin
6	chr7:101527200-101542200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:101528600-101555200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:101528800-101544000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:101529400-101543000	Weak transcription	Brain Substantia Nigra	brain
10	chr7:101529400-101554200	Weak transcription	Primary T cells from cord blood	blood
11	chr7:101530600-101559800	Weak transcription	GM12878-XiMat	blood
12	chr7:101531000-101545000	Weak transcription	Gastric	stomach
13	chr7:101531000-101548000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:101531400-101543000	Weak transcription	Placenta	Placenta
15	chr7:101531400-101554600	Weak transcription	Hela-S3	cervix
16	chr7:101533800-101559000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:101534200-101546600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:101535000-101544800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:101535400-101554400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:101535600-101554200	Weak transcription	HepG2	liver
21	chr7:101535600-101554600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:101535800-101543200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:101535800-101543200	Weak transcription	HSMMtube	muscle
24	chr7:101535800-101555200	Weak transcription	Liver	Liver
25	chr7:101535800-101555600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:101536000-101542400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:101536000-101543000	Weak transcription	HSMM	muscle
28	chr7:101536000-101543600	Weak transcription	A549	lung
29	chr7:101536800-101543800	Weak transcription	Brain Germinal Matrix	brain
30	chr7:101537000-101543400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:101537000-101543600	Weak transcription	Ovary	ovary
32	chr7:101537000-101547600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:101537000-101547600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr7:101537000-101554400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:101537000-101554600	Weak transcription	Fetal Intestine Large	intestine
36	chr7:101537400-101542200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:101537600-101559000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:101538600-101543400	Enhancers	Fetal Muscle Leg	muscle
39	chr7:101539200-101543200	Enhancers	Psoas Muscle	Psoas
40	chr7:101539600-101541800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:101539600-101541800	Enhancers	Fetal Heart	heart
42	chr7:101539600-101548800	Weak transcription	Thymus	Thymus
43	chr7:101539800-101542200	Weak transcription	Dnd41	blood
44	chr7:101539800-101543200	Weak transcription	Right Ventricle	heart
45	chr7:101539800-101543400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:101540000-101545400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:101540000-101546400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:101540000-101555600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:101540200-101559200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:101540400-101542600	Weak transcription	Fetal Brain Female	brain

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