Variant report

Variant	rs61990941
Chromosome Location	chr14:67773279-67773280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67764986..67767272-chr14:67772227..67775004,2	K562	blood:
2	chr14:67770905..67773401-chr14:67777247..67778917,2	MCF-7	breast:
3	chr14:67772965..67775727-chr14:67826233..67828942,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100554	Chromatin interaction
ENSG00000134001	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11846654	0.84[AMR][1000 genomes]
rs12434519	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41285538	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61988179	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv902065	chr14:67739285-67819602	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67721400-67798400	Weak transcription	Hela-S3	cervix
2	chr14:67732400-67810000	Weak transcription	Gastric	stomach
3	chr14:67735400-67778600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:67735400-67798400	Weak transcription	K562	blood
5	chr14:67735600-67810000	Weak transcription	Aorta	Aorta
6	chr14:67737000-67777600	Weak transcription	HepG2	liver
7	chr14:67737200-67801400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:67738200-67778600	Weak transcription	HSMMtube	muscle
9	chr14:67738200-67786400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:67739800-67778600	Weak transcription	Left Ventricle	heart
11	chr14:67740000-67790600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:67750000-67801400	Weak transcription	Fetal Heart	heart
13	chr14:67753600-67799200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:67753800-67791200	Weak transcription	Thymus	Thymus
15	chr14:67755800-67788000	Weak transcription	NHLF	lung
16	chr14:67756400-67799000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:67758000-67785800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:67758400-67801400	Weak transcription	Small Intestine	intestine
19	chr14:67759000-67777600	Weak transcription	Pancreas	Pancrea
20	chr14:67759800-67799800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:67761200-67778200	Weak transcription	NH-A	brain
22	chr14:67761200-67778600	Weak transcription	Brain Angular Gyrus	brain
23	chr14:67762000-67787800	Weak transcription	Psoas Muscle	Psoas
24	chr14:67762600-67793400	Strong transcription	HSMM	muscle
25	chr14:67762600-67799000	Weak transcription	Fetal Brain Female	brain
26	chr14:67762600-67825200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:67762800-67778600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:67763000-67790000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:67763200-67778600	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:67764400-67825200	Weak transcription	Stomach Mucosa	stomach
31	chr14:67766800-67787800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr14:67767000-67787800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:67767000-67790600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:67767200-67797600	Weak transcription	Fetal Brain Male	brain
35	chr14:67767200-67799000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:67767200-67804200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:67767200-67804600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:67767200-67825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:67768000-67773400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr14:67768000-67774000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:67768000-67774000	Strong transcription	Placenta	Placenta
42	chr14:67768000-67775000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:67768200-67774000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:67768200-67774600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr14:67768200-67774800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:67768200-67775000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:67768200-67775800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:67768400-67787800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr14:67768400-67790000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:67768600-67774000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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