Variant report

Variant	rs229259
Chromosome Location	chr14:31066879-31066880
allele	C/G
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	CTCF	chr14:31066800-31066950	HepG2	liver:	n/a	n/a
2	STAT3	chr14:31066866-31066929	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr14:31066723-31066944	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr14:31066710-31067026	MCF10A-Er-Src	breast:	n/a	n/a
5	ARID3A	chr14:31066753-31066989	K562	blood:	n/a	n/a
6	ARID3A	chr14:31066850-31067008	HepG2	liver:	n/a	n/a
7	STAT3	chr14:31066507-31067021	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31053757..31056719-chr14:31064798..31067024,2	K562	blood:

Variant related genes	Relation type
G2E3	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs229178	0.86[YRI][hapmap];0.90[AMR][1000 genomes]
rs229233	0.80[AMR][1000 genomes]
rs229246	0.90[AMR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS 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	50 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	chr14:31029000-31071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:31032000-31067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:31032400-31067200	Weak transcription	Fetal Stomach	stomach
5	chr14:31033800-31070000	Weak transcription	Lung	lung
6	chr14:31040200-31069800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:31043000-31079600	Weak transcription	Gastric	stomach
8	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
9	chr14:31045000-31070000	Weak transcription	Aorta	Aorta
10	chr14:31045800-31067400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:31046800-31069800	Weak transcription	Fetal Kidney	kidney
12	chr14:31047000-31069800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:31047000-31079600	Weak transcription	Pancreas	Pancrea
14	chr14:31049600-31079600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:31050200-31079800	Weak transcription	Brain Angular Gyrus	brain
16	chr14:31050800-31067800	Weak transcription	Ovary	ovary
17	chr14:31051800-31079600	Weak transcription	Fetal Brain Male	brain
18	chr14:31052000-31077400	Weak transcription	Psoas Muscle	Psoas
19	chr14:31053600-31079800	Weak transcription	Brain Substantia Nigra	brain
20	chr14:31053800-31067600	Weak transcription	Brain Anterior Caudate	brain
21	chr14:31053800-31070200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:31054600-31068000	Weak transcription	HSMMtube	muscle
25	chr14:31054800-31072000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:31054800-31087200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:31055000-31086800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:31055400-31067400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:31055400-31069800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:31055400-31070000	Weak transcription	Colonic Mucosa	Colon
31	chr14:31055600-31088000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:31056200-31067600	Weak transcription	Brain Hippocampus Middle	brain
33	chr14:31057000-31067400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:31057000-31067400	Weak transcription	Thymus	Thymus
35	chr14:31057200-31071800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:31057400-31077600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr14:31057800-31079800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:31058400-31080000	Weak transcription	Fetal Heart	heart
39	chr14:31058800-31069800	Weak transcription	Spleen	Spleen
40	chr14:31058800-31074800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:31059200-31069400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:31059400-31067600	Weak transcription	Fetal Brain Female	brain
43	chr14:31059400-31067800	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:31059400-31067800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:31059600-31069200	Weak transcription	NHEK	skin
46	chr14:31059600-31069400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:31059800-31067600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:31059800-31069400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:31059800-31080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:31060000-31067600	Weak transcription	Adipose Nuclei	Adipose

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