Variant report

Variant	rs7144107
Chromosome Location	chr14:31566970-31566971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31566343..31568008-chr14:31570057..31571588,2	K562	blood:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10130804	0.91[EUR][1000 genomes]
rs10134821	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10136065	0.87[EUR][1000 genomes]
rs10136918	0.88[EUR][1000 genomes]
rs10142413	0.83[EUR][1000 genomes]
rs10146042	0.95[EUR][1000 genomes]
rs10146272	0.86[EUR][1000 genomes]
rs10147747	0.84[EUR][1000 genomes]
rs12880208	0.87[EUR][1000 genomes]
rs12888959	0.93[EUR][1000 genomes]
rs28377925	0.90[EUR][1000 genomes]
rs28806860	0.91[EUR][1000 genomes]
rs34807591	0.87[EUR][1000 genomes]
rs34975239	0.95[EUR][1000 genomes]
rs61978760	0.91[EUR][1000 genomes]
rs6571391	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6571392	0.81[EUR][1000 genomes]
rs7147179	0.86[EUR][1000 genomes]
rs7154556	0.83[EUR][1000 genomes]
rs7159848	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7161315	0.80[EUR][1000 genomes]
rs8004286	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8005747	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8022272	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer 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	26 gene(s)	inside rSNPs	diseases
9	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
2	chr14:31528600-31567200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:31530000-31567000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr14:31530000-31567200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:31534600-31572000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:31534800-31569200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:31537400-31569200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr14:31537800-31569800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:31538000-31567200	Weak transcription	GM12878-XiMat	blood
10	chr14:31539000-31567200	Weak transcription	Thymus	Thymus
11	chr14:31540600-31567000	Weak transcription	Dnd41	blood
12	chr14:31541800-31567200	Weak transcription	Fetal Brain Male	brain
13	chr14:31546800-31567400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:31547000-31569800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:31548600-31569600	Weak transcription	Brain Germinal Matrix	brain
16	chr14:31548800-31571800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:31550000-31567000	Weak transcription	Esophagus	oesophagus
18	chr14:31550400-31569800	Weak transcription	Aorta	Aorta
19	chr14:31550600-31568600	Weak transcription	K562	blood
20	chr14:31553600-31567200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:31554600-31567200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr14:31556800-31567000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr14:31558600-31569400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:31559800-31568200	Weak transcription	Colonic Mucosa	Colon
25	chr14:31560000-31567000	Weak transcription	Gastric	stomach
26	chr14:31560200-31567200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:31560400-31567200	Weak transcription	NH-A	brain
28	chr14:31560600-31567000	Weak transcription	HSMM	muscle
29	chr14:31560600-31567200	Weak transcription	Brain Substantia Nigra	brain
30	chr14:31560600-31567200	Weak transcription	Fetal Lung	lung
31	chr14:31560600-31567200	Weak transcription	HMEC	breast
32	chr14:31560600-31567200	Weak transcription	NHEK	skin
33	chr14:31560600-31569000	Weak transcription	Fetal Heart	heart
34	chr14:31560600-31569400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:31560600-31569600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:31560800-31569600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:31560800-31569800	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:31561000-31567000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:31561000-31567200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr14:31561200-31567000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:31561200-31567000	Weak transcription	NHDF-Ad	bronchial
42	chr14:31561200-31567200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr14:31561400-31567000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:31561400-31567200	Weak transcription	Hela-S3	cervix
45	chr14:31561400-31569000	Weak transcription	Stomach Mucosa	stomach
46	chr14:31561400-31571800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr14:31561600-31569600	Weak transcription	Right Ventricle	heart
48	chr14:31561800-31567000	Weak transcription	A549	lung
49	chr14:31561800-31567200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr14:31561800-31567200	Weak transcription	HSMMtube	muscle

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