Variant report

Variant	rs1980613
Chromosome Location	chr14:39636304-39636305
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39635717..39639064-chr14:39734944..39738287,4	MCF-7	breast:
2	chr14:39571209..39573524-chr14:39635118..39637016,2	MCF-7	breast:
3	chr14:39636108..39642775-chr14:39734196..39739360,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150527	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000258651	Chromatin interaction
ENSG00000100934	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12883114	0.85[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.80[YRI][hapmap]
rs12897381	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12897593	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17616347	0.88[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap]
rs17617123	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17617289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17679493	0.95[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1884383	0.88[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap]
rs1950508	0.85[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.80[YRI][hapmap]
rs1980611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038359	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038360	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144527	0.85[CEU][hapmap];0.90[CHB][hapmap]
rs2273315	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2415533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2753596	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs28364834	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35006421	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35114880	0.95[ASN][1000 genomes]
rs35270180	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35502984	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35767652	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36057038	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60085216	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66488055	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67849341	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67968129	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7140282	0.88[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap]
rs7140321	0.95[ASN][1000 genomes]
rs7145856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs715267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7157774	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72673356	0.84[ASN][1000 genomes]
rs8007240	0.85[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap]
rs8008726	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8011244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8011494	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8020013	0.85[CEU][hapmap];0.90[CHB][hapmap]
rs8020321	0.92[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap]
rs8022864	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv1813567	chr14:39632114-39642840	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 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	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:39611000-39637600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:39611200-39638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:39611400-39638000	Weak transcription	A549	lung
5	chr14:39612800-39637800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:39614400-39636800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr14:39614800-39636800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:39616200-39637000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:39616800-39636400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr14:39617600-39637800	Weak transcription	Psoas Muscle	Psoas
11	chr14:39617800-39637400	Weak transcription	K562	blood
12	chr14:39619600-39637400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:39621000-39638400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:39624400-39638000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:39626800-39637600	Weak transcription	Fetal Heart	heart
16	chr14:39626800-39637800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:39627000-39637200	Weak transcription	Brain Angular Gyrus	brain
18	chr14:39627000-39637400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:39627000-39637600	Weak transcription	HSMMtube	muscle
20	chr14:39627000-39637800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:39627000-39637800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:39627000-39638800	Weak transcription	Gastric	stomach
23	chr14:39627200-39638600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:39628200-39637600	Weak transcription	NHDF-Ad	bronchial
25	chr14:39629000-39636400	Strong transcription	Fetal Intestine Large	intestine
26	chr14:39630400-39636400	Strong transcription	Fetal Muscle Leg	muscle
27	chr14:39631200-39637400	Weak transcription	HUVEC	blood vessel
28	chr14:39631600-39637200	Weak transcription	Ovary	ovary
29	chr14:39631600-39637400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:39631600-39638600	Weak transcription	Esophagus	oesophagus
31	chr14:39631800-39637400	Weak transcription	Brain Substantia Nigra	brain
32	chr14:39631800-39637800	Weak transcription	Colonic Mucosa	Colon
33	chr14:39631800-39638600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr14:39632000-39637600	Weak transcription	Primary B cells from cord blood	blood
35	chr14:39632200-39636800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:39632200-39637200	Weak transcription	Adipose Nuclei	Adipose
37	chr14:39632200-39637400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:39632200-39637400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:39632200-39637400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:39632200-39637400	Weak transcription	NHLF	lung
41	chr14:39632200-39637600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:39632200-39637600	Weak transcription	Brain Anterior Caudate	brain
43	chr14:39632200-39637600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr14:39632200-39637800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr14:39632200-39637800	Weak transcription	NH-A	brain
46	chr14:39632200-39638000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:39632200-39638600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:39632200-39638600	Weak transcription	Pancreas	Pancrea
49	chr14:39632400-39637400	Weak transcription	Brain Hippocampus Middle	brain
50	chr14:39632400-39637800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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