Variant report

Variant	rs74060221
Chromosome Location	chr14:70084978-70084979
allele	A/G
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	chr14:70077503..70080648-chr14:70081276..70089043,11	MCF-7	breast:
3	chr14:70083322..70086232-chr14:70086631..70089872,4	K562	blood:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1275832	1.00[AMR][1000 genomes]
rs17107164	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17107165	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17107166	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2783512	1.00[AMR][1000 genomes]
rs55954221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56192566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57105079	1.00[AMR][1000 genomes]
rs61636155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060225	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060242	0.83[AFR][1000 genomes]
rs74060243	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060250	1.00[AMR][1000 genomes]
rs9671513	1.00[AMR][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	chr14:70082400-70086600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:70082400-70092000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:70082400-70092000	Weak transcription	Gastric	stomach
17	chr14:70082400-70092200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr14:70082600-70085200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:70082600-70088000	Weak transcription	HepG2	liver
20	chr14:70082600-70088600	Enhancers	Brain Anterior Caudate	brain
21	chr14:70082600-70092600	Weak transcription	Esophagus	oesophagus
22	chr14:70082800-70085200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:70082800-70086000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr14:70082800-70086400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:70082800-70087200	Enhancers	Colon Smooth Muscle	Colon
26	chr14:70082800-70089600	Enhancers	Primary B cells from peripheral blood	blood
27	chr14:70083000-70085800	Weak transcription	Aorta	Aorta
28	chr14:70083000-70088800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr14:70083000-70088800	Enhancers	Thymus	Thymus
30	chr14:70083000-70089000	Enhancers	Adipose Nuclei	Adipose
31	chr14:70083000-70092000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:70083000-70092000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr14:70083200-70085000	Enhancers	Dnd41	blood
34	chr14:70083200-70085200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:70083200-70085800	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr14:70083200-70085800	Enhancers	Stomach Mucosa	stomach
37	chr14:70083200-70086800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr14:70083200-70086800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:70083200-70087800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr14:70083200-70088800	Enhancers	Duodenum Mucosa	Duodenum
41	chr14:70083200-70091800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr14:70083200-70092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:70083200-70092000	Enhancers	Primary T cells from cord blood	blood
44	chr14:70083200-70092000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr14:70083200-70092000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:70083400-70085400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:70083400-70085400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr14:70083400-70085400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr14:70083400-70085600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:70083400-70085600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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