Variant report

Variant	rs7619143
Chromosome Location	chr3:78650071-78650072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:78649589..78651625-chr3:78651637..78654545,2	K562	blood:
2	chr3:78268430..78271192-chr3:78649323..78651997,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs6801311	1.00[AMR][1000 genomes]
rs72898924	1.00[AMR][1000 genomes]
rs72902737	1.00[AMR][1000 genomes]
rs72902757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902801	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904704	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904750	1.00[AFR][1000 genomes]
rs73846527	1.00[AMR][1000 genomes]
rs73850751	1.00[AMR][1000 genomes]
rs7629175	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9865169	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877017	chr3:77881397-78670654	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529995	chr3:78188643-78739698	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1008156	chr3:78444137-78765884	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv834743	chr3:78494263-78663600	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1010650	chr3:78505564-78699161	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78636000-78655600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:78638400-78654600	Weak transcription	Fetal Brain Male	brain
3	chr3:78638600-78651400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:78638600-78655000	Weak transcription	Fetal Kidney	kidney
5	chr3:78638600-78655200	Weak transcription	Fetal Stomach	stomach
6	chr3:78638600-78666800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:78638600-78676400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:78638800-78650400	Weak transcription	Fetal Lung	lung
9	chr3:78639000-78655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:78639200-78654600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:78639400-78654400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:78639600-78651600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:78639600-78655600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:78641000-78654200	Weak transcription	Brain Germinal Matrix	brain
15	chr3:78641600-78661600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:78642000-78655200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:78642400-78654600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:78642400-78692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:78642600-78653800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:78643200-78655400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:78643600-78654000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:78643800-78654400	Weak transcription	Adipose Nuclei	Adipose
23	chr3:78644400-78654000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:78645600-78655200	Weak transcription	Ovary	ovary
25	chr3:78646000-78662800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:78646200-78653800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:78646200-78660000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:78646200-78683400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr3:78646600-78655600	Weak transcription	Primary T cells from cord blood	blood
30	chr3:78646800-78651200	Weak transcription	Esophagus	oesophagus
31	chr3:78646800-78655200	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:78646800-78659400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:78646800-78676400	Weak transcription	Lung	lung
34	chr3:78647000-78655800	Weak transcription	Brain Anterior Caudate	brain
35	chr3:78647200-78650400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:78647200-78662800	Weak transcription	Brain Substantia Nigra	brain
37	chr3:78647200-78701000	Weak transcription	Spleen	Spleen
38	chr3:78647400-78653600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:78647400-78653600	Weak transcription	Fetal Brain Female	brain
40	chr3:78647400-78694800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr3:78647600-78657200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:78647600-78675600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:78648400-78655000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:78648600-78651200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:78648600-78686800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:78648800-78655200	Weak transcription	Aorta	Aorta
47	chr3:78649000-78655400	Weak transcription	HMEC	breast
48	chr3:78649200-78654400	Weak transcription	Colon Smooth Muscle	Colon
49	chr3:78649400-78653600	Weak transcription	HepG2	liver
50	chr3:78649400-78659400	Weak transcription	NHEK	skin

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