Variant report

Variant	rs62289297
Chromosome Location	chr4:7845123-7845124
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7844578..7847956-chr4:7851101..7853656,4	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12512881	0.84[ASN][1000 genomes]
rs28404053	0.86[EUR][1000 genomes]
rs28893261	0.81[AMR][1000 genomes]
rs55851047	0.85[ASN][1000 genomes]
rs61562759	0.84[ASN][1000 genomes]
rs62289296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62289318	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62289358	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62290560	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73210848	0.84[ASN][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	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
2	chr4:7825600-7852200	Weak transcription	Gastric	stomach
3	chr4:7825800-7854200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:7826000-7846000	Weak transcription	Stomach Mucosa	stomach
5	chr4:7830400-7850000	Weak transcription	Right Ventricle	heart
6	chr4:7830400-7862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:7830600-7845200	Weak transcription	Colonic Mucosa	Colon
8	chr4:7830600-7845800	Weak transcription	Brain Anterior Caudate	brain
9	chr4:7830600-7846400	Weak transcription	Brain Substantia Nigra	brain
10	chr4:7830600-7855200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:7830600-7856200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:7830600-7857200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:7830600-7862200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:7830600-7862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:7830800-7854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:7831600-7845800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:7832200-7845600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:7832200-7845800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:7832200-7854000	Weak transcription	Brain Angular Gyrus	brain
20	chr4:7832600-7845600	Weak transcription	Small Intestine	intestine
21	chr4:7833000-7845600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:7833600-7845600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:7833800-7845600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:7833800-7855200	Weak transcription	Spleen	Spleen
25	chr4:7834200-7845400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:7834200-7845600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:7834200-7845600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:7834400-7845800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:7835400-7846000	Strong transcription	Fetal Intestine Small	intestine
30	chr4:7836600-7855200	Weak transcription	Fetal Kidney	kidney
31	chr4:7840200-7845400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:7840600-7853400	Weak transcription	Pancreas	Pancrea
33	chr4:7842000-7845800	Weak transcription	HepG2	liver
34	chr4:7842000-7847600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:7842000-7847600	Weak transcription	Fetal Brain Male	brain
36	chr4:7842800-7845400	Strong transcription	Fetal Brain Female	brain
37	chr4:7842800-7845800	Strong transcription	Brain Germinal Matrix	brain
38	chr4:7842800-7846600	Genic enhancers	Fetal Stomach	stomach
39	chr4:7842800-7847800	Genic enhancers	Fetal Muscle Leg	muscle
40	chr4:7842800-7848000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr4:7843000-7845600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:7843200-7847800	Weak transcription	Primary T cells from cord blood	blood
43	chr4:7843400-7845600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr4:7843400-7848800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr4:7843400-7852400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:7843600-7845400	Weak transcription	Fetal Heart	heart
47	chr4:7843600-7846600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr4:7843600-7848400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:7843600-7851200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr4:7843600-7863000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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