Variant report

Variant	rs2024662
Chromosome Location	chr14:31457222-31457223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31454676..31457967-chr14:31492507..31496946,4	MCF-7	breast:
2	chr14:31457071..31460059-chr14:31491796..31493863,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196792	Chromatin interaction
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10129452	0.81[EUR][1000 genomes]
rs10135412	0.85[ASN][1000 genomes]
rs10138452	0.90[ASN][1000 genomes]
rs10140025	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10140238	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10145545	0.85[ASN][1000 genomes]
rs10147690	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10151219	0.84[ASN][1000 genomes]
rs1033559	0.84[ASN][1000 genomes]
rs10444696	0.97[ASN][1000 genomes]
rs10872848	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12019004	0.89[ASN][1000 genomes]
rs12436401	0.86[ASN][1000 genomes]
rs12590617	0.90[ASN][1000 genomes]
rs12884687	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17448194	0.87[ASN][1000 genomes]
rs179698	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs179699	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs179701	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs179702	0.94[ASN][1000 genomes]
rs179704	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs179705	0.93[ASN][1000 genomes]
rs179706	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs179707	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs179709	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs179710	0.94[ASN][1000 genomes]
rs179711	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs179712	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs179714	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs179715	0.92[AMR][1000 genomes]
rs179717	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs179718	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs179720	0.92[ASN][1000 genomes]
rs179721	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs179722	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs179725	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs179726	0.90[ASN][1000 genomes]
rs179731	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs179733	0.90[ASN][1000 genomes]
rs179734	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs179736	0.90[ASN][1000 genomes]
rs179737	0.90[ASN][1000 genomes]
rs179743	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs179744	0.89[ASN][1000 genomes]
rs1884057	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2144040	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2179934	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2378813	0.86[ASN][1000 genomes]
rs28535014	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28648046	0.90[ASN][1000 genomes]
rs3784157	0.81[EUR][1000 genomes]
rs3898581	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4340230	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4981811	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4981812	0.90[ASN][1000 genomes]
rs6571380	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66463317	0.96[ASN][1000 genomes]
rs67209135	0.89[ASN][1000 genomes]
rs7140306	0.83[EUR][1000 genomes]
rs7140667	0.84[EUR][1000 genomes]
rs7143488	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7149411	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7150581	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7150642	0.89[ASN][1000 genomes]
rs7153141	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7154042	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7155894	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7350754	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8018402	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9322865	0.83[EUR][1000 genomes]
rs9322869	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3411274	chr14:31442250-31460681	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	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
6	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
7	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:31436000-31457400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:31436400-31457800	Weak transcription	NHEK	skin
4	chr14:31440400-31462000	Weak transcription	Right Atrium	heart
5	chr14:31441000-31464800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:31441200-31457400	Weak transcription	NH-A	brain
7	chr14:31441600-31464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:31442400-31461400	Weak transcription	Left Ventricle	heart
9	chr14:31442400-31494400	Weak transcription	Gastric	stomach
10	chr14:31442600-31457800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:31443000-31459800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:31443200-31460200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:31443400-31460000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:31443600-31462200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:31444000-31472800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:31444200-31459800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:31444200-31464000	Weak transcription	Brain Anterior Caudate	brain
19	chr14:31444400-31460600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:31445000-31458200	Weak transcription	Psoas Muscle	Psoas
21	chr14:31445000-31460600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:31445800-31459600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:31446600-31459800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:31446600-31461600	Weak transcription	Fetal Muscle Leg	muscle
25	chr14:31449400-31460800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr14:31449600-31457800	Weak transcription	HMEC	breast
27	chr14:31451200-31458400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:31451200-31464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:31452000-31460400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr14:31452200-31460600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:31452600-31458200	Weak transcription	K562	blood
32	chr14:31452600-31459800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:31453800-31460000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr14:31453800-31460600	Weak transcription	Primary B cells from cord blood	blood
35	chr14:31454000-31458400	Weak transcription	Lung	lung
36	chr14:31454800-31462800	Weak transcription	Fetal Intestine Small	intestine
37	chr14:31455000-31458200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr14:31455200-31459800	Weak transcription	GM12878-XiMat	blood
39	chr14:31455200-31466400	Weak transcription	Primary T cells from cord blood	blood
40	chr14:31455400-31457600	Weak transcription	HSMMtube	muscle
41	chr14:31455600-31457400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:31455600-31457800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:31455600-31460800	Weak transcription	Small Intestine	intestine
44	chr14:31455800-31457400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:31455800-31460000	Weak transcription	Fetal Kidney	kidney
46	chr14:31455800-31460000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:31456000-31457800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr14:31456000-31459800	Weak transcription	Colon Smooth Muscle	Colon
49	chr14:31456000-31464400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:31456000-31465200	Weak transcription	Brain Angular Gyrus	brain

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