Variant report

Variant	rs74060220
Chromosome Location	chr14:70084413-70084414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70083799..70085934-chr14:70125234..70127724,2	MCF-7	breast:
2	chr14:70075659..70077569-chr14:70081813..70084609,2	K562	blood:
3	chr14:70077503..70080648-chr14:70081276..70089043,11	MCF-7	breast:
4	chr14:70083322..70086232-chr14:70086631..70089872,4	K562	blood:
5	chr14:70082796..70084596-chr14:70115953..70118660,2	MCF-7	breast:
6	chr14:70082470..70084833-chr14:70167168..70169181,2	K562	blood:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11845658	1.00[EUR][1000 genomes]
rs11849924	1.00[EUR][1000 genomes]
rs12100899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1803419	1.00[EUR][1000 genomes]
rs1957367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55959724	1.00[EUR][1000 genomes]
rs56051240	1.00[EUR][1000 genomes]
rs56808476	1.00[EUR][1000 genomes]
rs56859443	1.00[EUR][1000 genomes]
rs57781039	1.00[EUR][1000 genomes]
rs58053579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58140746	1.00[EUR][1000 genomes]
rs58503693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58583730	1.00[EUR][1000 genomes]
rs60085780	1.00[EUR][1000 genomes]
rs60835679	1.00[EUR][1000 genomes]
rs61498582	1.00[EUR][1000 genomes]
rs61734222	1.00[EUR][1000 genomes]
rs61745930	1.00[EUR][1000 genomes]
rs7144597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73293376	1.00[EUR][1000 genomes]
rs74060205	1.00[EUR][1000 genomes]
rs74060234	1.00[EUR][1000 genomes]
rs74060251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060267	1.00[EUR][1000 genomes]
rs74060270	1.00[EUR][1000 genomes]
rs74060281	1.00[EUR][1000 genomes]
rs74060283	1.00[EUR][1000 genomes]
rs74060286	1.00[EUR][1000 genomes]
rs74060294	1.00[EUR][1000 genomes]
rs74060297	1.00[EUR][1000 genomes]
rs74061847	1.00[EUR][1000 genomes]
rs74061848	1.00[EUR][1000 genomes]
rs74061850	1.00[EUR][1000 genomes]
rs74061851	1.00[EUR][1000 genomes]
rs74061853	1.00[EUR][1000 genomes]
rs74061856	1.00[EUR][1000 genomes]
rs74061857	1.00[EUR][1000 genomes]
rs74061864	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70079600-70085600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:70079600-70095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70080000-70089200	Enhancers	Small Intestine	intestine
4	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
5	chr14:70080600-70085400	Enhancers	Fetal Lung	lung
6	chr14:70080600-70085600	Weak transcription	Hela-S3	cervix
7	chr14:70080600-70088200	Enhancers	Liver	Liver
8	chr14:70080600-70088800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr14:70080800-70088800	Enhancers	Brain Substantia Nigra	brain
10	chr14:70080800-70092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:70081200-70087400	Enhancers	Brain Angular Gyrus	brain
12	chr14:70081200-70088600	Enhancers	Brain Cingulate Gyrus	brain
13	chr14:70081600-70088800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:70082400-70084800	Enhancers	Fetal Intestine Small	intestine
15	chr14:70082400-70086600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:70082400-70092000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:70082400-70092000	Weak transcription	Gastric	stomach
18	chr14:70082400-70092200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:70082600-70085200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr14:70082600-70088000	Weak transcription	HepG2	liver
21	chr14:70082600-70088600	Enhancers	Brain Anterior Caudate	brain
22	chr14:70082600-70092600	Weak transcription	Esophagus	oesophagus
23	chr14:70082800-70085200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:70082800-70086000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr14:70082800-70086400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:70082800-70087200	Enhancers	Colon Smooth Muscle	Colon
27	chr14:70082800-70089600	Enhancers	Primary B cells from peripheral blood	blood
28	chr14:70083000-70085800	Weak transcription	Aorta	Aorta
29	chr14:70083000-70088800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr14:70083000-70088800	Enhancers	Thymus	Thymus
31	chr14:70083000-70089000	Enhancers	Adipose Nuclei	Adipose
32	chr14:70083000-70092000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:70083000-70092000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr14:70083200-70084600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:70083200-70085000	Enhancers	Dnd41	blood
36	chr14:70083200-70085200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:70083200-70085800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr14:70083200-70085800	Enhancers	Stomach Mucosa	stomach
39	chr14:70083200-70086800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr14:70083200-70086800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:70083200-70087800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr14:70083200-70088800	Enhancers	Duodenum Mucosa	Duodenum
43	chr14:70083200-70091800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr14:70083200-70092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr14:70083200-70092000	Enhancers	Primary T cells from cord blood	blood
46	chr14:70083200-70092000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr14:70083200-70092000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:70083400-70084600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:70083400-70084600	Weak transcription	NH-A	brain
50	chr14:70083400-70085400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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