Variant report

Variant	rs13242512
Chromosome Location	chr7:129546400-129546401
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129542390..129544026-chr7:129545338..129548140,2	MCF-7	breast:
2	chr7:129544543..129549195-chr7:129554830..129557453,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRF1-2	chr7:129546220-129548631	NONHSAT123319

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11760945	0.82[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11766629	1.00[ASW][hapmap]
rs13238927	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs17161487	1.00[ASW][hapmap]
rs17559596	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs34403102	0.90[EUR][1000 genomes]
rs35596978	0.85[EUR][1000 genomes]
rs71583738	1.00[AFR][1000 genomes]
rs71583745	1.00[AFR][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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129513200-129548600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
3	chr7:129518200-129557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:129518200-129564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:129519400-129546400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:129519600-129546400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:129520800-129551200	Weak transcription	Placenta	Placenta
8	chr7:129522000-129548200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:129522600-129547800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:129522600-129548400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:129522600-129548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:129526000-129548200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:129529800-129553400	Weak transcription	Brain Germinal Matrix	brain
14	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:129531600-129548400	Weak transcription	Fetal Brain Female	brain
16	chr7:129535400-129546800	Weak transcription	Colonic Mucosa	Colon
17	chr7:129536200-129548000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:129537000-129546600	Weak transcription	A549	lung
19	chr7:129537000-129554800	Weak transcription	NHDF-Ad	bronchial
20	chr7:129537200-129552000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:129539000-129546600	Weak transcription	NH-A	brain
22	chr7:129539200-129546800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:129539600-129554800	Weak transcription	Dnd41	blood
24	chr7:129541000-129546800	Strong transcription	Fetal Thymus	thymus
25	chr7:129541000-129547400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:129541000-129552400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:129541200-129546600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:129541200-129546600	Weak transcription	Fetal Lung	lung
29	chr7:129541200-129548000	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr7:129541400-129546800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr7:129541400-129547000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:129541400-129547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:129541400-129547200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:129541400-129548600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:129541400-129551800	Weak transcription	NHLF	lung
36	chr7:129541600-129547800	Weak transcription	HMEC	breast
37	chr7:129541600-129548400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:129541800-129559200	Weak transcription	Esophagus	oesophagus
39	chr7:129542000-129546400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr7:129542000-129546600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:129542200-129546400	Enhancers	Pancreas	Pancrea
42	chr7:129542200-129546600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr7:129542400-129547200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr7:129542600-129546400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr7:129543000-129546600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:129543000-129546800	Weak transcription	Ovary	ovary
47	chr7:129543000-129546800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr7:129543000-129547000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:129543000-129548200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:129543000-129549200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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