Variant report

Variant	rs73274694
Chromosome Location	chr14:63942422-63942423
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	NFATC1	chr14:63942419-63942882	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63934904..63936738-chr14:63941732..63944394,2	MCF-7	breast:
2	chr14:63941924..63943433-chr14:63948646..63951523,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252800	TF binding region
RNU6-852P	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10147174	1.00[AMR][1000 genomes]
rs1255719	1.00[AMR][1000 genomes]
rs73274613	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274619	0.86[AFR][1000 genomes];1.00[AMR][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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63921000-63944600	Weak transcription	Dnd41	blood
2	chr14:63930200-63950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:63931200-63959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:63934400-63946400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr14:63935400-63958800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:63936000-63942600	Weak transcription	Primary T cells from cord blood	blood
7	chr14:63936000-63945200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:63937800-63951200	Weak transcription	Fetal Lung	lung
9	chr14:63938000-63943200	Weak transcription	Brain Angular Gyrus	brain
10	chr14:63938200-63948000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:63938600-63942600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:63938600-63942800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:63938600-63943000	Enhancers	HepG2	liver
14	chr14:63938600-63944400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:63938600-63944600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:63938600-63945200	Weak transcription	NHDF-Ad	bronchial
17	chr14:63938600-63948800	Weak transcription	HSMM	muscle
18	chr14:63938600-63962800	Weak transcription	Fetal Stomach	stomach
19	chr14:63938600-63963800	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:63938800-63944000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:63938800-63949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:63938800-63958800	Weak transcription	Osteobl	bone
23	chr14:63939000-63942600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:63939000-63944800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr14:63939000-63976800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:63939200-63943000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:63939400-63942800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:63939400-63944800	Weak transcription	NHLF	lung
29	chr14:63939600-63942600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:63939600-63945600	Weak transcription	Lung	lung
31	chr14:63939600-63949400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:63939600-63950000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:63939600-63950600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:63939600-63951200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:63939800-63944600	Weak transcription	Adipose Nuclei	Adipose
36	chr14:63939800-63950200	Weak transcription	Gastric	stomach
37	chr14:63939800-63967200	Weak transcription	Fetal Intestine Small	intestine
38	chr14:63940000-63943600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:63940400-63943800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:63940400-63947000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr14:63940600-63942800	Weak transcription	Colon Smooth Muscle	Colon
42	chr14:63940600-63942800	Weak transcription	Fetal Heart	heart
43	chr14:63940600-63944000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:63940600-63948600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:63940800-63942600	Weak transcription	A549	lung
46	chr14:63940800-63944800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:63940800-63950800	Weak transcription	NHEK	skin
48	chr14:63940800-63959000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:63941000-63944200	Weak transcription	Primary B cells from cord blood	blood
50	chr14:63941000-63946000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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