Variant report

Variant	rs11622118
Chromosome Location	chr14:24742320-24742321
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24723886..24727280-chr14:24739756..24742681,5	K562	blood:
2	chr14:24617636..24620012-chr14:24740760..24742567,2	MCF-7	breast:
3	chr14:24741150..24743790-chr14:24903528..24906094,2	K562	blood:
4	chr14:24742260..24745882-chr14:24750433..24756794,5	K562	blood:
5	chr14:24740761..24742611-chr14:24767431..24768980,2	K562	blood:
6	chr14:24741158..24743083-chr14:24801501..24803190,2	MCF-7	breast:
7	chr14:24731299..24737661-chr14:24737668..24742603,15	K562	blood:
8	chr14:24680755..24686632-chr14:24737203..24743863,8	MCF-7	breast:
9	chr14:24741724..24744792-chr14:24900386..24902979,3	MCF-7	breast:
10	chr14:24738683..24743110-chr14:24766285..24769354,4	K562	blood:
11	chr14:24740917..24742571-chr14:24770385..24772196,2	K562	blood:
12	chr14:24655787..24658216-chr14:24740858..24744211,3	K562	blood:
13	chr14:24740443..24742571-chr14:24769665..24772196,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260669	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000092295	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2075530	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2281473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877612	0.98[ASN][1000 genomes]
rs3814813	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3825585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573651	0.98[ASN][1000 genomes]
rs6573653	0.98[ASN][1000 genomes]
rs941505	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24740800-24743800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr14:24740800-24743800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr14:24741000-24742800	Weak transcription	Gastric	stomach
4	chr14:24741000-24743400	Weak transcription	Spleen	Spleen
5	chr14:24741200-24742400	Enhancers	Esophagus	oesophagus
6	chr14:24741200-24753200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:24741200-24758800	Weak transcription	Aorta	Aorta
8	chr14:24741200-24768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:24741400-24742400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:24741400-24742400	Enhancers	Fetal Lung	lung
11	chr14:24741400-24742800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:24741400-24742800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:24741400-24742800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:24741400-24742800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:24741400-24742800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:24741400-24742800	Weak transcription	Pancreas	Pancrea
17	chr14:24741400-24742800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:24741400-24743000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:24741400-24743000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr14:24741400-24743200	Weak transcription	Placenta	Placenta
21	chr14:24741400-24743200	Weak transcription	Left Ventricle	heart
22	chr14:24741400-24743200	Weak transcription	NH-A	brain
23	chr14:24741400-24743400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:24741400-24743400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr14:24741400-24743600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr14:24741400-24743800	Enhancers	Primary hematopoietic stem cells	blood
27	chr14:24741400-24743800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr14:24741400-24743800	Enhancers	Liver	Liver
29	chr14:24741400-24744000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:24741400-24744000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:24741400-24744200	Enhancers	Primary B cells from peripheral blood	blood
32	chr14:24741400-24744600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:24741400-24744800	Enhancers	Primary B cells from cord blood	blood
34	chr14:24741400-24745200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:24741400-24745200	Enhancers	HMEC	breast
36	chr14:24741400-24746000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:24741400-24746200	Weak transcription	Colonic Mucosa	Colon
38	chr14:24741400-24746400	Weak transcription	Right Ventricle	heart
39	chr14:24741400-24747600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:24741400-24747600	Weak transcription	Brain Substantia Nigra	brain
41	chr14:24741400-24748400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:24741400-24748400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:24741400-24748400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:24741400-24748400	Weak transcription	Brain Angular Gyrus	brain
45	chr14:24741400-24748400	Weak transcription	Brain Anterior Caudate	brain
46	chr14:24741400-24748400	Weak transcription	Psoas Muscle	Psoas
47	chr14:24741400-24748400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:24741400-24748400	Weak transcription	HSMM	muscle
49	chr14:24741400-24748800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:24741400-24748800	Weak transcription	Lung	lung

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