Variant report

Variant	rs41228
Chromosome Location	chr14:71824530-71824531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11620849	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2041331	0.83[ASN][1000 genomes]
rs36531	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36533	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36534	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs40621	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41216	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41220	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs718854	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015579	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8019634	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[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	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41228	RP11-718G2.3	cis	lung	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71805400-71828600	Weak transcription	Dnd41	blood
2	chr14:71806600-71838400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:71808400-71829800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:71808800-71838600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:71812200-71838800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:71813400-71829000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:71816200-71827800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:71816600-71826800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:71819000-71825400	Weak transcription	Thymus	Thymus
10	chr14:71820000-71833600	Enhancers	Primary B cells from peripheral blood	blood
11	chr14:71820200-71838600	Weak transcription	Hela-S3	cervix
12	chr14:71820400-71825600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:71820600-71838800	Weak transcription	Primary T cells from cord blood	blood
14	chr14:71821600-71824600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:71821600-71826000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:71821800-71828600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:71822000-71828400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:71822400-71825200	Enhancers	Stomach Smooth Muscle	stomach
19	chr14:71822400-71829600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:71822600-71828400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:71822800-71825600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr14:71822800-71826400	Weak transcription	Stomach Mucosa	stomach
23	chr14:71822800-71826600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:71822800-71826600	Weak transcription	Fetal Intestine Large	intestine
25	chr14:71822800-71826600	Weak transcription	Small Intestine	intestine
26	chr14:71822800-71827200	Enhancers	Primary B cells from cord blood	blood
27	chr14:71822800-71828000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:71822800-71828000	Weak transcription	NH-A	brain
29	chr14:71822800-71828200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr14:71822800-71828200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr14:71822800-71828800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:71822800-71830000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:71822800-71830000	Weak transcription	HSMM	muscle
34	chr14:71822800-71830800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:71823000-71825200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr14:71823000-71825400	Weak transcription	Fetal Intestine Small	intestine
37	chr14:71823000-71825400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr14:71823000-71826600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:71823000-71826800	Enhancers	Rectal Smooth Muscle	rectum
40	chr14:71823000-71827800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr14:71823000-71827800	Weak transcription	Osteobl	bone
42	chr14:71823000-71828000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:71823000-71828200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:71823000-71828200	Weak transcription	Esophagus	oesophagus
45	chr14:71823000-71828600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr14:71823000-71828600	Weak transcription	Fetal Brain Female	brain
47	chr14:71823000-71829000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:71823000-71829600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:71823000-71829600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:71823000-71829800	Weak transcription	Brain Anterior Caudate	brain

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