Variant report

Variant	rs1978333
Chromosome Location	chr7:33322230-33322231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:33314204..33317885-chr7:33320684..33323971,3	K562	blood:

Variant related genes	Relation type
ENSG00000224946	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10225173	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10251775	0.81[ASN][1000 genomes]
rs10262453	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10271927	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12155002	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12530700	0.88[ASN][1000 genomes]
rs12534242	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12536596	0.96[ASN][1000 genomes]
rs12537512	0.81[ASN][1000 genomes]
rs12537875	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12538649	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345306	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1420152	0.84[EUR][1000 genomes]
rs1420153	0.81[ASN][1000 genomes]
rs1420154	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17396870	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17724206	0.96[ASN][1000 genomes]
rs17725673	0.81[ASN][1000 genomes]
rs28435377	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28789535	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4720113	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4720114	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4720119	0.81[ASN][1000 genomes]
rs4723276	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62451190	0.88[ASN][1000 genomes]
rs6946608	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947352	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6979640	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7785463	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7789007	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9768604	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv916660	chr7:33272493-33506384	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1792546	chr7:33304218-33346932	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv887925	chr7:33304218-33361323	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33311200-33325200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:33313200-33328200	Weak transcription	Fetal Kidney	kidney
3	chr7:33315000-33325000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:33315200-33324200	Weak transcription	HSMMtube	muscle
5	chr7:33317000-33347600	Weak transcription	Pancreas	Pancrea
6	chr7:33318600-33339600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:33318800-33323400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:33318800-33324400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:33318800-33325000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:33318800-33326800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:33318800-33327400	Weak transcription	Left Ventricle	heart
12	chr7:33319000-33323200	Weak transcription	Fetal Lung	lung
13	chr7:33319000-33323400	Weak transcription	Aorta	Aorta
14	chr7:33319000-33327400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:33319000-33327400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:33319000-33327600	Weak transcription	Fetal Stomach	stomach
17	chr7:33319000-33331600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:33319200-33323400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:33319800-33323600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:33320000-33323400	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:33320000-33323600	Weak transcription	Primary T cells from cord blood	blood
22	chr7:33320200-33323400	Weak transcription	Ovary	ovary
23	chr7:33320200-33323600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr7:33321200-33329200	Weak transcription	Primary T cells fromperipheralblood	blood

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