Variant report

Variant	rs74042111
Chromosome Location	chr14:31492324-31492325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31480033..31485916-chr14:31491801..31497532,12	MCF-7	breast:
2	chr14:31490764..31493752-chr14:31493938..31496002,7	MCF-7	breast:
3	chr14:31345684..31347889-chr14:31491247..31494015,2	K562	blood:
4	chr14:31476012..31477905-chr14:31492310..31494262,2	MCF-7	breast:
5	chr14:31457071..31460059-chr14:31491796..31493863,2	MCF-7	breast:
6	chr14:31491737..31493873-chr14:31520369..31522639,2	K562	blood:

Variant related genes	Relation type
ENSG00000196792	Chromatin interaction
ENSG00000100473	Chromatin interaction
ENSG00000207952	Chromatin interaction
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12101123	1.00[AFR][1000 genomes]
rs3784156	1.00[AFR][1000 genomes]
rs55634176	1.00[AFR][1000 genomes]
rs55732490	0.83[AFR][1000 genomes]
rs55804417	1.00[AFR][1000 genomes]
rs56316705	1.00[AFR][1000 genomes]
rs56966033	1.00[AFR][1000 genomes]
rs58179315	1.00[AFR][1000 genomes]
rs58379576	1.00[AFR][1000 genomes]
rs58559369	1.00[AFR][1000 genomes]
rs60843224	1.00[AFR][1000 genomes]
rs61404362	1.00[AFR][1000 genomes]
rs74040904	1.00[AFR][1000 genomes]
rs74040939	1.00[AFR][1000 genomes]
rs74040942	1.00[AFR][1000 genomes]
rs74040944	1.00[AFR][1000 genomes]
rs74040947	1.00[AFR][1000 genomes]
rs74040949	1.00[AFR][1000 genomes]
rs74040951	1.00[AFR][1000 genomes]
rs74040953	1.00[AFR][1000 genomes]
rs74040962	1.00[AFR][1000 genomes]
rs74040964	1.00[AFR][1000 genomes]
rs74040966	1.00[AFR][1000 genomes]
rs74041092	1.00[AFR][1000 genomes]
rs74041094	1.00[AFR][1000 genomes]
rs74041102	1.00[AFR][1000 genomes]
rs74042116	1.00[AFR][1000 genomes]
rs74042117	1.00[AFR][1000 genomes]
rs74042118	1.00[AFR][1000 genomes]
rs74042170	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31442400-31494400	Weak transcription	Gastric	stomach
2	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:31458600-31494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:31461200-31492400	Weak transcription	Fetal Kidney	kidney
5	chr14:31461200-31494400	Weak transcription	Small Intestine	intestine
6	chr14:31464200-31493600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:31464400-31492400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:31465400-31492400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:31467800-31493000	Weak transcription	HSMMtube	muscle
10	chr14:31467800-31493400	Weak transcription	Brain Angular Gyrus	brain
11	chr14:31468000-31493000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:31468400-31493200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:31468400-31493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:31468800-31493200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:31469800-31492600	Weak transcription	Fetal Brain Male	brain
16	chr14:31470000-31493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:31470400-31493200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:31470600-31493200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:31472800-31492800	Weak transcription	Fetal Brain Female	brain
20	chr14:31473000-31493000	Weak transcription	Brain Substantia Nigra	brain
21	chr14:31474200-31493200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:31476200-31493200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:31476200-31493200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:31478400-31493200	Weak transcription	Aorta	Aorta
25	chr14:31482600-31492600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:31482600-31493000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:31482600-31493200	Weak transcription	Brain Germinal Matrix	brain
28	chr14:31482600-31494400	Weak transcription	Lung	lung
29	chr14:31484600-31493200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:31485600-31492800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:31485800-31492600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:31486000-31493800	Weak transcription	Colonic Mucosa	Colon
33	chr14:31487800-31493200	Weak transcription	Right Ventricle	heart
34	chr14:31487800-31493200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:31487800-31493800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:31487800-31494000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:31487800-31494000	Weak transcription	Placenta	Placenta
38	chr14:31487800-31494400	Weak transcription	Esophagus	oesophagus
39	chr14:31487800-31494400	Weak transcription	Spleen	Spleen
40	chr14:31488000-31492600	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:31488000-31492800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:31488000-31493000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr14:31488000-31493800	Weak transcription	Thymus	Thymus
44	chr14:31488000-31494000	Weak transcription	Ovary	ovary
45	chr14:31488000-31494400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:31488200-31493200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr14:31488200-31493800	Weak transcription	Fetal Thymus	thymus
48	chr14:31488400-31493200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:31488400-31494200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:31489400-31493000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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