Variant report

Variant	rs11880647
Chromosome Location	chr19:44107520-44107521
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44105666..44109399-chr19:44121081..44124426,3	K562	blood:
2	chr19:44101670..44103492-chr19:44107059..44108577,2	MCF-7	breast:
3	chr19:44106723..44108884-chr19:44122339..44124163,2	MCF-7	breast:
4	chr19:44101681..44103493-chr19:44106654..44108776,2	K562	blood:
5	chr19:44106374..44108896-chr19:44122542..44124063,2	MCF-7	breast:
6	chr19:44105250..44107981-chr19:44110094..44113502,4	K562	blood:

Variant related genes	Relation type
ENSG00000131116	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4251921	1.00[YRI][hapmap]

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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44101600-44112000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:44101800-44109400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:44101800-44111600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:44101800-44123200	Weak transcription	Small Intestine	intestine
5	chr19:44102000-44122600	Weak transcription	Fetal Kidney	kidney
6	chr19:44102200-44111000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:44102200-44111200	Strong transcription	Fetal Muscle Leg	muscle
8	chr19:44102200-44113600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:44102200-44114200	Weak transcription	NH-A	brain
10	chr19:44102200-44114600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:44102200-44122600	Weak transcription	Psoas Muscle	Psoas
12	chr19:44102400-44109600	Weak transcription	Fetal Brain Male	brain
13	chr19:44102400-44110800	Weak transcription	Colon Smooth Muscle	Colon
14	chr19:44102400-44119600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:44102400-44122600	Weak transcription	NHDF-Ad	bronchial
16	chr19:44102600-44108000	Strong transcription	Thymus	Thymus
17	chr19:44102600-44108200	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:44102600-44109800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr19:44102600-44115800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr19:44102600-44116200	Weak transcription	Hela-S3	cervix
21	chr19:44102600-44120600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:44102600-44121200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:44102600-44122600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr19:44102600-44122600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr19:44102800-44107600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:44102800-44108200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:44102800-44120000	Strong transcription	Fetal Stomach	stomach
28	chr19:44103000-44107800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:44103000-44111200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:44103200-44107600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:44103200-44115000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:44103400-44109800	Weak transcription	HMEC	breast
33	chr19:44103600-44107600	Strong transcription	Dnd41	blood
34	chr19:44104000-44111000	Weak transcription	HUVEC	blood vessel
35	chr19:44104000-44111800	Weak transcription	Aorta	Aorta
36	chr19:44104000-44114000	Weak transcription	NHLF	lung
37	chr19:44104000-44116000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:44104000-44116200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:44104400-44110200	Weak transcription	Brain Substantia Nigra	brain
40	chr19:44104400-44110600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr19:44104400-44122800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr19:44104600-44110000	Weak transcription	NHEK	skin
43	chr19:44104600-44110400	Weak transcription	Pancreas	Pancrea
44	chr19:44104600-44110600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:44104600-44111000	Weak transcription	Osteobl	bone
46	chr19:44104600-44111600	Weak transcription	Colonic Mucosa	Colon
47	chr19:44104600-44111800	Weak transcription	Esophagus	oesophagus
48	chr19:44104600-44115800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr19:44104600-44116200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr19:44104600-44116400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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