Variant report

Variant	rs13232846
Chromosome Location	chr7:127737740-127737741
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127737543..127740197-chr7:127740336..127742903,2	MCF-7	breast:
2	chr7:127735968..127738181-chr7:127743649..127746341,2	K562	blood:
3	chr7:127734758..127738581-chr7:127762335..127766176,3	K562	blood:
4	chr7:127720539..127723394-chr7:127734463..127737789,3	K562	blood:
5	chr7:127735954..127738632-chr7:127744138..127745884,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207588	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12706824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13223326	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13238717	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13240628	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17733783	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34209480	0.88[AMR][1000 genomes]
rs34393727	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35013916	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35081291	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35584770	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35602492	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35990797	0.82[AMR][1000 genomes]
rs3757762	0.88[AMR][1000 genomes]
rs3779525	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3808062	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62483978	0.85[EUR][1000 genomes]
rs6948752	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS 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	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127707800-127742200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:127710600-127737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:127711800-127737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:127712200-127738200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:127713800-127738800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:127714400-127738000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr7:127715800-127738400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:127717000-127738000	Weak transcription	Fetal Kidney	kidney
9	chr7:127717200-127738600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:127717600-127738800	Strong transcription	Liver	Liver
11	chr7:127720600-127738200	Strong transcription	GM12878-XiMat	blood
12	chr7:127722400-127738400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:127724000-127739800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:127724600-127743600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:127725200-127737800	Strong transcription	Fetal Muscle Leg	muscle
16	chr7:127725800-127739000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr7:127726000-127737800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:127726000-127743600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:127726200-127739200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:127726200-127739400	Strong transcription	Fetal Intestine Small	intestine
21	chr7:127726600-127739400	Strong transcription	Fetal Stomach	stomach
22	chr7:127727200-127740000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:127728600-127738200	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:127729200-127739600	Strong transcription	Fetal Intestine Large	intestine
25	chr7:127730000-127742800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:127730400-127740600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:127730400-127743800	Weak transcription	HSMM	muscle
28	chr7:127730600-127737800	Strong transcription	Lung	lung
29	chr7:127730800-127738800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:127731000-127739000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:127731400-127743600	Weak transcription	Brain Substantia Nigra	brain
32	chr7:127731800-127743600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:127732000-127738600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:127732200-127743600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr7:127732800-127743600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr7:127733000-127739400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:127733000-127739400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:127733000-127740600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:127733200-127743600	Weak transcription	Primary B cells from cord blood	blood
40	chr7:127733200-127743800	Weak transcription	Small Intestine	intestine
41	chr7:127733400-127738400	Weak transcription	K562	blood
42	chr7:127733400-127740400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr7:127733600-127743400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:127733600-127743600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr7:127733800-127740400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:127733800-127743400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:127734000-127738600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:127734000-127740400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr7:127734000-127741200	Weak transcription	Fetal Lung	lung
50	chr7:127734200-127743600	Weak transcription	NHDF-Ad	bronchial

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