Variant report

Variant	rs12669881
Chromosome Location	chr7:116645880-116645881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	7:115861595-115870968..7:116641011-116646266	GM12878	blood:
2	7:116641011-116646266..7:116754962-116765597	GM12878	blood:
3	chr7:116639114..116641911-chr7:116644148..116646393,2	K562	blood:
4	7:115847372-115857098..7:116641011-116646266	GM12878	blood:

Variant related genes	Relation type
ENSG00000004866	Chromatin interaction
ENSG00000135269	Chromatin interaction

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

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

rs_ID	r²[population]
rs11771917	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12539753	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12672783	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35057858	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4236605	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55840193	0.89[ASN][1000 genomes]
rs59908721	0.83[ASN][1000 genomes]
rs7788320	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7800379	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][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	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv527321	chr7:116635048-116660803	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116613600-116647000	Weak transcription	Right Atrium	heart
2	chr7:116627800-116648200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:116627800-116648800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:116632600-116649000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:116635600-116654800	Weak transcription	Psoas Muscle	Psoas
6	chr7:116635800-116660200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:116638600-116647400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:116639200-116647200	Weak transcription	Right Ventricle	heart
9	chr7:116639600-116647000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:116639600-116647600	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:116639800-116660000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:116641400-116646200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:116644600-116646400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:116644800-116646200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:116645000-116646800	Enhancers	HSMM	muscle
16	chr7:116645200-116647600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:116645200-116649600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:116645400-116646200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:116645400-116646400	Enhancers	NHDF-Ad	bronchial
20	chr7:116645400-116646600	Enhancers	HSMMtube	muscle
21	chr7:116645600-116646200	Weak transcription	NHLF	lung
22	chr7:116645600-116646800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:116645600-116647200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:116645600-116649000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr7:116645600-116649200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:116645600-116652800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr7:116645800-116646600	Weak transcription	Fetal Heart	heart
28	chr7:116645800-116648600	Weak transcription	Osteobl	bone
29	chr7:116645800-116649000	Weak transcription	NH-A	brain
30	chr7:116645800-116654200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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