Variant report

Variant	rs11844799
Chromosome Location	chr14:55363020-55363021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55360231..55364033-chr14:55366282..55369580,4	K562	blood:
2	chr14:55359081..55363562-chr14:55365386..55370539,12	MCF-7	breast:
3	chr14:55279326..55281967-chr14:55362988..55365196,2	MCF-7	breast:
4	chr14:55361522..55363244-chr14:55517974..55519538,2	MCF-7	breast:
5	chr14:55348331..55350043-chr14:55361093..55363707,2	K562	blood:
6	chr14:55359687..55364414-chr14:55366282..55370012,8	K562	blood:

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10132356	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134647	1.00[AMR][1000 genomes]
rs10137504	1.00[AMR][1000 genomes]
rs10137881	1.00[AMR][1000 genomes]
rs10141456	0.87[AFR][1000 genomes]
rs10144581	1.00[AMR][1000 genomes]
rs10145816	1.00[AMR][1000 genomes]
rs10149080	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149945	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150556	1.00[AMR][1000 genomes]
rs10220342	1.00[AMR][1000 genomes]
rs17128033	1.00[AMR][1000 genomes]
rs28491418	1.00[AMR][1000 genomes]
rs28643468	1.00[AMR][1000 genomes]
rs28662314	1.00[AMR][1000 genomes]
rs28706216	1.00[AMR][1000 genomes]
rs28719471	1.00[AMR][1000 genomes]
rs9323273	1.00[AMR][1000 genomes]
rs9323274	1.00[AMR][1000 genomes]
rs9972204	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3358123	chr14:55359251-55378030	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55345400-55368200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:55348400-55368200	Weak transcription	Gastric	stomach
3	chr14:55349000-55366400	Weak transcription	Hela-S3	cervix
4	chr14:55349200-55367400	Weak transcription	Fetal Intestine Large	intestine
5	chr14:55349200-55367400	Weak transcription	Thymus	Thymus
6	chr14:55349400-55367800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:55349600-55367200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:55349600-55368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:55350000-55366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:55353600-55365800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:55354000-55367200	Weak transcription	Primary T cells from cord blood	blood
12	chr14:55356000-55368000	Weak transcription	Spleen	Spleen
13	chr14:55356400-55365600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:55356400-55368000	Weak transcription	Small Intestine	intestine
15	chr14:55356600-55367800	Weak transcription	K562	blood
16	chr14:55356800-55364200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:55356800-55365400	Weak transcription	Fetal Intestine Small	intestine
18	chr14:55358200-55367400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:55358600-55367200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:55359000-55364200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr14:55359000-55366600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:55359000-55367400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:55359400-55367400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:55359600-55367000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:55360200-55363200	Enhancers	Liver	Liver
26	chr14:55360400-55367200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr14:55360800-55364400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:55360800-55367400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:55360800-55367800	Weak transcription	HMEC	breast
30	chr14:55361800-55363200	Enhancers	Osteobl	bone
31	chr14:55362000-55363200	Enhancers	HepG2	liver
32	chr14:55362400-55365600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr14:55362400-55367000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr14:55362400-55367200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:55362600-55365400	Weak transcription	GM12878-XiMat	blood
36	chr14:55362600-55366000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:55362600-55367200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:55362600-55367200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:55362600-55367200	Weak transcription	NHEK	skin
40	chr14:55362600-55367400	Weak transcription	NH-A	brain
41	chr14:55362800-55365800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:55362800-55365800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:55362800-55366600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:55362800-55367200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:55362800-55367400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:55362800-55367400	Weak transcription	HUVEC	blood vessel
47	chr14:55362800-55367800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:55362800-55368000	Weak transcription	Lung	lung
49	chr14:55363000-55365600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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