Variant report

Variant	rs71608266
Chromosome Location	chr4:3296077-3296078
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3293993..3296488-chr4:3491954..3495229,3	MCF-7	breast:
2	chr4:3294234..3297919-chr4:3387466..3390148,3	MCF-7	breast:
3	chr4:3249484..3252398-chr4:3294414..3296079,2	K562	blood:

Variant related genes	Relation type
ENSG00000175920	Chromatin interaction
ENSG00000159788	Chromatin interaction
ENSG00000188981	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1120898	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13110866	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13120043	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13126960	0.91[ASN][1000 genomes]
rs13129052	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13130998	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13133859	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13150521	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844124	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16844147	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844152	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844209	0.85[EUR][1000 genomes]
rs34004517	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34052318	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34067673	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34628563	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34780636	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34849917	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35150150	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35450001	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35720136	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35825779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57904538	1.00[ASN][1000 genomes]
rs61211078	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61748736	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71608267	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71608268	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71608278	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs878004	0.90[ASN][1000 genomes]
rs994425	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994426	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	63 gene(s)	inside rSNPs	diseases
3	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv878454	chr4:3215835-3305739	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv878455	chr4:3215835-3344891	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	10 gene(s)	inside rSNPs	diseases
6	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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	13 gene(s)	inside rSNPs	diseases
7	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv878458	chr4:3235518-3303976	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv878459	chr4:3235518-3310831	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv878460	chr4:3260154-3303976	Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv878461	chr4:3270488-3339038	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv593440	chr4:3283422-3339038	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv461165	chr4:3283422-3342137	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv593441	chr4:3283422-3342137	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	esv3381315	chr4:3293754-3296077	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	esv3372993	chr4:3294704-3297502	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3293600-3297000	Active TSS	Fetal Kidney	kidney
2	chr4:3294600-3308800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:3295200-3296200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr4:3295200-3296200	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr4:3295200-3296200	Flanking Bivalent TSS/Enh	Dnd41	blood
6	chr4:3295200-3296400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr4:3295200-3296600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:3295200-3296800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:3295400-3296200	Flanking Active TSS	Fetal Intestine Small	intestine
10	chr4:3295400-3296200	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr4:3295400-3296400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:3295400-3296400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr4:3295400-3296400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:3295400-3296400	Flanking Active TSS	Fetal Stomach	stomach
15	chr4:3295400-3296400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr4:3295400-3296600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:3295400-3296600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:3295400-3296800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr4:3295400-3296800	Flanking Active TSS	Fetal Brain Female	brain
20	chr4:3295400-3298400	Weak transcription	Aorta	Aorta
21	chr4:3295600-3296200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:3295600-3296200	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:3295600-3296200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:3295600-3296200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:3295600-3296200	Enhancers	Liver	Liver
26	chr4:3295600-3296400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:3295600-3296400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:3295600-3296400	Flanking Active TSS	Fetal Lung	lung
29	chr4:3295600-3296600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:3295600-3296600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr4:3295600-3296600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr4:3295600-3296800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:3295600-3297000	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr4:3295600-3297000	Enhancers	Placenta	Placenta
35	chr4:3295600-3297000	Flanking Active TSS	HUVEC	blood vessel
36	chr4:3295600-3300600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:3295800-3296200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:3295800-3296200	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr4:3295800-3296200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:3295800-3296200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr4:3295800-3296200	Active TSS	Colonic Mucosa	Colon
42	chr4:3295800-3296200	Enhancers	Left Ventricle	heart
43	chr4:3295800-3296200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr4:3295800-3296200	Flanking Active TSS	HSMM	muscle
45	chr4:3295800-3296400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:3295800-3296400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr4:3295800-3296400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:3295800-3296400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr4:3295800-3296400	Enhancers	Fetal Intestine Large	intestine
50	chr4:3295800-3296600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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