Variant report

Variant	rs2271000
Chromosome Location	chr11:19167717-19167718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:19167284-19167789	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:19165811..19169038-chr11:19178567..19181274,4	K562	blood:
2	chr11:19094423..19096324-chr11:19165752..19167827,2	MCF-7	breast:

Variant related genes	Relation type
ZDHHC13	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2278148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2292087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19139600-19175000	Weak transcription	Pancreas	Pancrea
2	chr11:19139800-19172000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:19140000-19169600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:19140000-19186400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:19140200-19175000	Weak transcription	Thymus	Thymus
6	chr11:19140800-19186800	Weak transcription	Colonic Mucosa	Colon
7	chr11:19142000-19168400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr11:19142800-19173200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:19143200-19167800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:19143400-19185800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:19143400-19186400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:19143400-19201600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:19143600-19170400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:19143600-19197400	Weak transcription	Small Intestine	intestine
15	chr11:19143800-19168600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:19147400-19170600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:19147600-19174200	Weak transcription	Osteobl	bone
18	chr11:19152800-19175000	Weak transcription	Psoas Muscle	Psoas
19	chr11:19153200-19186600	Weak transcription	Aorta	Aorta
20	chr11:19154000-19175000	Weak transcription	Ovary	ovary
21	chr11:19154200-19168400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:19154400-19168800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:19154400-19174800	Weak transcription	Left Ventricle	heart
24	chr11:19154800-19168600	Weak transcription	Primary B cells from cord blood	blood
25	chr11:19154800-19171400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:19154800-19177200	Weak transcription	NHEK	skin
27	chr11:19155400-19170600	Weak transcription	GM12878-XiMat	blood
28	chr11:19156000-19168600	Weak transcription	A549	lung
29	chr11:19156200-19167800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:19156400-19175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:19156600-19168400	Weak transcription	Dnd41	blood
32	chr11:19156600-19193200	Weak transcription	Fetal Stomach	stomach
33	chr11:19156800-19167800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:19156800-19167800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:19156800-19193800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:19156800-19194200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:19157000-19170400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:19157200-19169400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:19157200-19186200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:19161600-19194400	Weak transcription	HSMM	muscle
41	chr11:19162200-19176200	Weak transcription	Gastric	stomach
42	chr11:19162400-19167800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:19162600-19168800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:19162800-19203000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr11:19163000-19169200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:19163200-19171000	Weak transcription	Fetal Intestine Large	intestine
47	chr11:19163400-19178000	Weak transcription	Fetal Brain Female	brain
48	chr11:19163600-19168400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:19163600-19170600	Weak transcription	Placenta	Placenta
50	chr11:19164000-19200400	Weak transcription	Fetal Brain Male	brain

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