Variant report

Variant	rs60990438
Chromosome Location	chr14:31466738-31466739
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31466156..31467918-chr14:31469337..31472276,2	K562	blood:
2	chr14:31462254..31468952-chr14:31492285..31496312,7	MCF-7	breast:
3	chr14:31465641..31468716-chr14:31477772..31480895,4	K562	blood:
4	chr14:31465612..31467146-chr14:31491620..31494583,2	K562	blood:
5	chr14:31464216..31466853-chr14:31676054..31677985,2	MCF-7	breast:
6	chr14:31465641..31468640-chr14:31477772..31480513,2	K562	blood:
7	chr14:31453719..31455508-chr14:31466401..31468964,2	MCF-7	breast:
8	chr14:31458519..31461343-chr14:31465487..31467458,2	K562	blood:
9	chr14:31466185..31468539-chr14:31472672..31474772,2	MCF-7	breast:
10	chr10:72393706..72394219-chr14:31466138..31467112,2	HCT-116	colon:
11	chr14:31463269..31470932-chr14:31491620..31497354,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction
ENSG00000196792	Chromatin interaction
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10459469	0.82[AMR][1000 genomes]
rs10459471	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10483355	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10483356	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10483359	0.90[EUR][1000 genomes]
rs11625390	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11627379	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17097531	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17097608	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17097614	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17097617	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2064823	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2281563	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2378815	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784158	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55708493	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57706775	0.82[AMR][1000 genomes]
rs60862458	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61129484	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61976779	0.84[AMR][1000 genomes]
rs61976796	0.84[AMR][1000 genomes]
rs61976799	0.84[AMR][1000 genomes]
rs67898509	0.82[AMR][1000 genomes]
rs72668381	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72670303	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008526	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9671318	0.84[AMR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31442400-31494400	Weak transcription	Gastric	stomach
2	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:31444000-31472800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:31457200-31467600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:31457400-31467200	Weak transcription	Dnd41	blood
6	chr14:31457600-31467200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:31458600-31467200	Weak transcription	Lung	lung
8	chr14:31458600-31494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:31460800-31467200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:31461000-31467600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:31461200-31467400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:31461200-31492400	Weak transcription	Fetal Kidney	kidney
13	chr14:31461200-31494400	Weak transcription	Small Intestine	intestine
14	chr14:31461400-31467000	Weak transcription	Primary B cells from cord blood	blood
15	chr14:31461400-31467000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:31461400-31487400	Weak transcription	Right Ventricle	heart
17	chr14:31462400-31467000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr14:31462400-31467200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:31463600-31467200	Weak transcription	Fetal Intestine Small	intestine
20	chr14:31463800-31467800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:31464000-31466800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:31464000-31466800	Enhancers	Brain Anterior Caudate	brain
23	chr14:31464200-31467800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:31464200-31493600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:31464400-31467000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:31464400-31467600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:31464400-31492400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:31464600-31467600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:31464800-31467200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:31464800-31467200	Weak transcription	HMEC	breast
31	chr14:31465000-31466800	Enhancers	Psoas Muscle	Psoas
32	chr14:31465000-31467000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr14:31465000-31467200	Strong transcription	HepG2	liver
34	chr14:31465000-31467200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr14:31465200-31466800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:31465200-31467000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:31465200-31467200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr14:31465200-31467200	Weak transcription	NHEK	skin
39	chr14:31465200-31467600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:31465200-31468200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:31465200-31470000	Weak transcription	Stomach Mucosa	stomach
42	chr14:31465400-31466800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:31465400-31466800	Weak transcription	Fetal Lung	lung
44	chr14:31465400-31466800	Weak transcription	A549	lung
45	chr14:31465400-31467000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:31465400-31467000	Weak transcription	Brain Germinal Matrix	brain
47	chr14:31465400-31467200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr14:31465400-31467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:31465400-31467200	Weak transcription	Fetal Stomach	stomach
50	chr14:31465400-31467400	Weak transcription	Duodenum Mucosa	Duodenum

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