Variant report

Variant	rs179705
Chromosome Location	chr14:31474221-31474222
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31471843..31474502-chr14:31478571..31481121,2	K562	blood:
2	chr14:31466185..31468539-chr14:31472672..31474772,2	MCF-7	breast:
3	chr14:31471923..31474357-chr14:31505063..31507952,2	K562	blood:
4	chr14:31472605..31475571-chr14:31494624..31496137,2	K562	blood:
5	chr14:31469435..31474245-chr14:31493637..31497268,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction
ENSG00000196792	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10135412	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10138011	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10138452	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140025	0.97[ASN][1000 genomes]
rs10140238	0.84[ASN][1000 genomes]
rs10145545	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10147690	0.84[ASN][1000 genomes]
rs10151219	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1033559	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10444696	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10872848	0.89[ASN][1000 genomes]
rs12019004	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12436401	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12590617	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12884687	0.88[ASN][1000 genomes]
rs17448194	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs179698	0.97[ASN][1000 genomes]
rs179699	0.97[ASN][1000 genomes]
rs179701	0.97[ASN][1000 genomes]
rs179702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs179704	0.97[ASN][1000 genomes]
rs179706	0.99[ASN][1000 genomes]
rs179707	0.98[ASN][1000 genomes]
rs179709	0.98[ASN][1000 genomes]
rs179710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs179711	0.89[ASN][1000 genomes]
rs179712	0.98[ASN][1000 genomes]
rs179714	0.98[ASN][1000 genomes]
rs179717	0.96[ASN][1000 genomes]
rs179718	0.98[ASN][1000 genomes]
rs179720	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs179721	0.97[ASN][1000 genomes]
rs179722	0.96[ASN][1000 genomes]
rs179725	0.94[ASN][1000 genomes]
rs179726	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs179731	0.94[ASN][1000 genomes]
rs179733	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs179734	0.94[ASN][1000 genomes]
rs179736	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs179737	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs179743	0.87[ASN][1000 genomes]
rs179744	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1884057	0.89[ASN][1000 genomes]
rs2024662	0.93[ASN][1000 genomes]
rs2144040	0.89[ASN][1000 genomes]
rs2179934	0.89[ASN][1000 genomes]
rs2378813	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28535014	0.88[ASN][1000 genomes]
rs28648046	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3784157	0.81[ASN][1000 genomes]
rs3898581	0.88[ASN][1000 genomes]
rs4340230	0.89[ASN][1000 genomes]
rs4981811	0.89[ASN][1000 genomes]
rs4981812	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6571380	0.94[ASN][1000 genomes]
rs66463317	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67209135	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7143488	0.92[ASN][1000 genomes]
rs7149411	0.93[ASN][1000 genomes]
rs7150581	0.92[ASN][1000 genomes]
rs7150642	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153141	0.84[ASN][1000 genomes]
rs7154042	0.89[ASN][1000 genomes]
rs7155894	0.96[ASN][1000 genomes]
rs72668364	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72668370	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7350754	0.89[ASN][1000 genomes]
rs8018402	0.86[ASN][1000 genomes]
rs9322869	0.95[ASN][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:121 , 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	chr14:31461400-31487400	Weak transcription	Right Ventricle	heart
7	chr14:31464200-31493600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:31464400-31492400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:31465400-31492400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:31465600-31480400	Weak transcription	Ovary	ovary
11	chr14:31465600-31487400	Weak transcription	Spleen	Spleen
12	chr14:31466400-31490000	Weak transcription	NHDF-Ad	bronchial
13	chr14:31466600-31474800	Weak transcription	Esophagus	oesophagus
14	chr14:31467000-31474800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:31467800-31481800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:31467800-31484400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:31467800-31485000	Weak transcription	Hela-S3	cervix
18	chr14:31467800-31487400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:31467800-31487400	Weak transcription	Thymus	Thymus
20	chr14:31467800-31492000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:31467800-31493000	Weak transcription	HSMMtube	muscle
22	chr14:31467800-31493400	Weak transcription	Brain Angular Gyrus	brain
23	chr14:31468000-31474600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr14:31468000-31481800	Weak transcription	Lung	lung
25	chr14:31468000-31487600	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:31468000-31489200	Weak transcription	NHLF	lung
27	chr14:31468000-31490200	Weak transcription	NH-A	brain
28	chr14:31468000-31493000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:31468200-31474400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:31468200-31475200	Weak transcription	Osteobl	bone
31	chr14:31468200-31487600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:31468400-31493200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:31468400-31493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:31468600-31476000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr14:31468600-31482200	Weak transcription	Placenta	Placenta
36	chr14:31468600-31487400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:31468600-31487400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:31468600-31487400	Weak transcription	Fetal Thymus	thymus
39	chr14:31468600-31490200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:31468800-31493200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:31469000-31480800	Weak transcription	Fetal Lung	lung
42	chr14:31469000-31489800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:31469200-31486800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr14:31469200-31492000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr14:31469800-31492600	Weak transcription	Fetal Brain Male	brain
46	chr14:31470000-31493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:31470200-31474600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:31470200-31477000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:31470400-31474400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:31470400-31474400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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