Variant report

Variant	rs11622356
Chromosome Location	chr14:103912195-103912196
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103857798..103859771-chr14:103910641..103912679,2	K562	blood:
2	chr14:103799148..103801068-chr14:103911027..103913977,2	K562	blood:
3	chr14:103910725..103912536-chr14:103938004..103940209,2	MCF-7	breast:
4	chr14:103909074..103912796-chr14:103914984..103919219,5	MCF-7	breast:
5	chr14:103908000..103910006-chr14:103912078..103913717,2	MCF-7	breast:
6	chr14:103901716..103904340-chr14:103911430..103913967,3	MCF-7	breast:
7	chr14:103908524..103912690-chr14:103913411..103917216,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100664	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10134580	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1013650	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139279	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10141120	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10141388	0.90[ASN][1000 genomes]
rs10141433	0.81[ASN][1000 genomes]
rs10143247	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10145793	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10150072	0.81[ASN][1000 genomes]
rs1028613	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11621510	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11623869	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11624367	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11626483	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11628213	0.81[ASN][1000 genomes]
rs11628969	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12879085	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12889639	0.81[EUR][1000 genomes]
rs12898029	0.82[EUR][1000 genomes]
rs17679475	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1951392	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1961600	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1989565	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2010281	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2273700	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2273703	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2403180	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28361338	0.85[ASN][1000 genomes]
rs28369539	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28444993	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28496120	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28583452	0.90[ASN][1000 genomes]
rs28626081	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34216351	0.90[ASN][1000 genomes]
rs3742458	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783394	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3783395	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3783402	0.81[ASN][1000 genomes]
rs3825566	0.81[ASN][1000 genomes]
rs4900572	0.81[EUR][1000 genomes]
rs56365443	0.81[ASN][1000 genomes]
rs62006268	0.81[ASN][1000 genomes]
rs62007681	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62007683	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62007684	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62007686	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62007687	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007718	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007719	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6575983	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6575984	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7140564	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7145113	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7146506	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7150317	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7152202	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7154246	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7155014	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7156150	0.81[ASN][1000 genomes]
rs7158144	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7158822	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7160208	0.81[ASN][1000 genomes]
rs7160366	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72708854	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72708874	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72708893	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8013101	0.81[ASN][1000 genomes]
rs8015918	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8019578	0.81[ASN][1000 genomes]
rs9671911	0.81[ASN][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	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11622356	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs11622356	MARK3	cis	Thyroid	GTEx
rs11622356	BAG5	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
3	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:103889400-103917800	Weak transcription	Gastric	stomach
5	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:103890200-103914200	Weak transcription	Lung	lung
7	chr14:103894600-103922400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
9	chr14:103895800-103917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:103896000-103916600	Weak transcription	Small Intestine	intestine
11	chr14:103896000-103922400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:103896000-103922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:103896400-103917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:103900800-103918600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:103901000-103914400	Weak transcription	Spleen	Spleen
17	chr14:103901000-103917800	Weak transcription	Thymus	Thymus
18	chr14:103901200-103918400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:103901400-103914600	Weak transcription	Aorta	Aorta
20	chr14:103901400-103917800	Weak transcription	Placenta	Placenta
21	chr14:103901600-103913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:103901600-103920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:103901600-103928600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:103902200-103912200	Weak transcription	Right Atrium	heart
25	chr14:103904200-103918200	Weak transcription	Fetal Intestine Large	intestine
26	chr14:103904200-103920000	Weak transcription	HUVEC	blood vessel
27	chr14:103905200-103917800	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:103905400-103920000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr14:103905800-103918400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:103906400-103916200	Weak transcription	Fetal Lung	lung
31	chr14:103906400-103917800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:103906600-103916000	Weak transcription	HMEC	breast
33	chr14:103906600-103917800	Weak transcription	Fetal Thymus	thymus
34	chr14:103906600-103920800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr14:103906800-103912600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr14:103906800-103913400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:103906800-103914600	Weak transcription	Adipose Nuclei	Adipose
38	chr14:103906800-103918000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:103907000-103912200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:103907000-103916200	Weak transcription	Osteobl	bone
41	chr14:103907000-103918400	Weak transcription	Primary T cells from cord blood	blood
42	chr14:103907200-103913400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:103907200-103914000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:103907400-103912800	Weak transcription	HepG2	liver
45	chr14:103908000-103914200	Weak transcription	Fetal Stomach	stomach
46	chr14:103908000-103919000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:103908200-103917800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:103908200-103917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:103908400-103917800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:103908400-103919800	Weak transcription	NHEK	skin

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