Variant report

Variant	rs2255171
Chromosome Location	chr14:105731036-105731037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105727643..105730103-chr14:105730653..105732973,3	K562	blood:
2	chr14:105713933..105716305-chr14:105730520..105734090,3	MCF-7	breast:
3	chr14:105725348..105727794-chr14:105730448..105732777,2	MCF-7	breast:
4	chr14:105717742..105719473-chr14:105729003..105731764,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184887	Chromatin interaction
ENSG00000185024	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1008628	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10140586	0.82[EUR][1000 genomes]
rs10162524	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11622166	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11624880	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624929	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11625098	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11850055	0.80[EUR][1000 genomes]
rs1473672	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1882846	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2015978	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2142190	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2245329	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2255575	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2735809	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2735812	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2735816	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2735817	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2735819	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2735820	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2735822	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2735824	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2735825	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2735826	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2735827	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2735828	0.86[AMR][1000 genomes]
rs2735829	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2735831	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816605	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2816606	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2816607	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2816609	0.86[AMR][1000 genomes]
rs2816610	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2816611	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2816612	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2816613	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2816614	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2816615	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2816616	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2816617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816618	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816619	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816620	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816621	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816622	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816624	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816625	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816626	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816627	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2816628	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2816629	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2816631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816632	0.83[EUR][1000 genomes]
rs2816634	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2816635	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816648	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2816649	0.83[AMR][1000 genomes]
rs2816650	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2816652	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2816653	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28489970	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28594491	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28625632	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28785556	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28818248	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28822720	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28846738	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2975216	0.82[AMR][1000 genomes]
rs2975217	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3000073	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3000075	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3803319	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3825762	0.82[EUR][1000 genomes]
rs4277291	0.81[ASN][1000 genomes]
rs4334224	0.81[ASN][1000 genomes]
rs4412909	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4555082	0.81[ASN][1000 genomes]
rs4677	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55883508	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56034563	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56263609	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58528939	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66527719	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7146012	0.81[ASN][1000 genomes]
rs7153832	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs760270	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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	88 gene(s)	inside rSNPs	diseases
7	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
8	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
14	nsv902460	chr14:105646179-105731255	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv566186	chr14:105675701-105779305	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv902466	chr14:105704465-105803170	Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	esv29986	chr14:105707292-105803170	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv832887	chr14:105717339-105803170	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	nsv832888	chr14:105717339-105803170	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv1049929	chr14:105718240-105772037	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
21	nsv1052355	chr14:105718240-105789157	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2255171	GARS	trans	lymphoblastoid	RTeQTL
rs2255171	BTBD6	cis	Artery Tibial	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105715600-105749400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:105715800-105766000	Weak transcription	Fetal Kidney	kidney
3	chr14:105716000-105732400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:105716200-105731200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:105716200-105734000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:105716400-105747800	Weak transcription	Hela-S3	cervix
7	chr14:105717400-105739600	Strong transcription	Fetal Stomach	stomach
8	chr14:105718600-105739200	Weak transcription	NHEK	skin
9	chr14:105718600-105746600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:105719400-105734600	Weak transcription	Brain Substantia Nigra	brain
11	chr14:105719400-105736600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:105719600-105748200	Weak transcription	Fetal Thymus	thymus
13	chr14:105719800-105734200	Weak transcription	Brain Angular Gyrus	brain
14	chr14:105719800-105734600	Weak transcription	Ovary	ovary
15	chr14:105720400-105749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:105720600-105748400	Weak transcription	HepG2	liver
17	chr14:105721400-105731600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:105721600-105734600	Weak transcription	NHLF	lung
19	chr14:105721800-105759800	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:105722000-105734000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:105722000-105740200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:105722000-105760600	Weak transcription	NH-A	brain
23	chr14:105722200-105734200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:105722200-105741600	Weak transcription	HSMMtube	muscle
25	chr14:105722400-105739200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:105722400-105750000	Weak transcription	Primary B cells from cord blood	blood
27	chr14:105722800-105732600	Weak transcription	GM12878-XiMat	blood
28	chr14:105723200-105733800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:105723200-105738800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr14:105723400-105750200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:105723800-105732600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:105723800-105733800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:105724000-105733000	Weak transcription	Small Intestine	intestine
34	chr14:105724000-105744400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr14:105724200-105733200	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:105724200-105734000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:105724200-105758600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:105724400-105734000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr14:105725800-105733400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr14:105725800-105734000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:105726000-105740000	Strong transcription	Fetal Intestine Small	intestine
42	chr14:105726200-105750400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:105726200-105750600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr14:105726600-105731200	Strong transcription	Placenta	Placenta
45	chr14:105726600-105735600	Weak transcription	Fetal Heart	heart
46	chr14:105727200-105731600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:105727400-105732400	Weak transcription	Liver	Liver
48	chr14:105727400-105734400	Weak transcription	Osteobl	bone
49	chr14:105727600-105733600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:105727800-105731200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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