Variant report

Variant	rs72990242
Chromosome Location	chr3:141715694-141715695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr3:141715263-141715813	T-47D	breast:	n/a	n/a
2	JUND	chr3:141715177-141715794	T-47D	breast:	n/a	n/a
3	EP300	chr3:141715076-141715957	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141709915..141712369-chr3:141715550..141717747,2	K562	blood:

Variant related genes	Relation type
TFDP2	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs57040056	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57528906	1.00[AMR][1000 genomes]
rs57535573	1.00[AMR][1000 genomes]
rs60203764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60311564	0.89[AFR][1000 genomes]
rs6768288	0.95[AFR][1000 genomes]
rs6793216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6803712	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990238	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990253	1.00[AMR][1000 genomes]
rs72990256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990274	1.00[AMR][1000 genomes]
rs72995068	1.00[AMR][1000 genomes]
rs7634385	1.00[AMR][1000 genomes]
rs7645629	1.00[AMR][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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141629000-141739200	Weak transcription	Psoas Muscle	Psoas
2	chr3:141671800-141719000	Weak transcription	Placenta	Placenta
3	chr3:141671800-141724000	Weak transcription	Right Ventricle	heart
4	chr3:141671800-141735600	Weak transcription	Aorta	Aorta
5	chr3:141677800-141739000	Weak transcription	Left Ventricle	heart
6	chr3:141678800-141745600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr3:141680000-141731200	Weak transcription	Fetal Brain Female	brain
8	chr3:141680800-141723200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:141682600-141723400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:141682800-141724600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr3:141682800-141739000	Weak transcription	Pancreas	Pancrea
12	chr3:141682800-141745800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:141682800-141746200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:141683000-141719400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:141683600-141716200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:141683800-141746600	Weak transcription	Lung	lung
17	chr3:141688000-141719400	Strong transcription	Dnd41	blood
18	chr3:141688800-141720200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:141688800-141729000	Strong transcription	Fetal Thymus	thymus
20	chr3:141689400-141720000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:141691800-141722800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:141696400-141719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:141697200-141718800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:141697400-141727200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:141697600-141719000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:141697600-141719000	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:141697600-141725800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:141697800-141719200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:141698400-141721400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:141698600-141738800	Weak transcription	HSMM	muscle
31	chr3:141704000-141716200	Weak transcription	Fetal Heart	heart
32	chr3:141704200-141725400	Weak transcription	Spleen	Spleen
33	chr3:141706400-141746200	Weak transcription	Fetal Lung	lung
34	chr3:141707200-141734400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:141708400-141731200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:141708600-141728400	Weak transcription	Liver	Liver
37	chr3:141708600-141745200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:141709000-141719600	Weak transcription	Fetal Stomach	stomach
39	chr3:141709600-141721800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:141709800-141719000	Weak transcription	Thymus	Thymus
41	chr3:141710800-141719800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:141711800-141732400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr3:141712800-141715800	Weak transcription	Ovary	ovary
44	chr3:141712800-141719000	Weak transcription	Primary T cells from cord blood	blood
45	chr3:141713000-141722400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr3:141713000-141724400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr3:141713200-141720000	Weak transcription	K562	blood
48	chr3:141713200-141722800	Weak transcription	Primary B cells from cord blood	blood
49	chr3:141713600-141715800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr3:141713600-141716400	Enhancers	Fetal Intestine Small	intestine

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