Variant report

Variant	rs73251132
Chromosome Location	chr14:31081190-31081191
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	chr14:31074562..31083390-chr14:31084587..31093565,15	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCFD1-1	chr14:31080508-31081585	NONHSAT036236

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12100621	1.00[AMR][1000 genomes]
rs57216699	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57549139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57618174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57677010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58653311	0.83[AFR][1000 genomes]
rs60350877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60353606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60362029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60727186	0.83[AFR][1000 genomes]
rs73251134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251151	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251156	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251167	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251168	1.00[AMR][1000 genomes]
rs73251169	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251177	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251179	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251181	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251184	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251199	0.83[AFR][1000 genomes]
rs73253017	0.83[AFR][1000 genomes]
rs73254546	0.83[AFR][1000 genomes]
rs73254548	0.83[AFR][1000 genomes]
rs73254552	0.83[AFR][1000 genomes]
rs73254553	0.83[AFR][1000 genomes]
rs73254554	0.83[AFR][1000 genomes]
rs73254555	0.83[AFR][1000 genomes]
rs73254556	0.83[AFR][1000 genomes]
rs73254560	0.83[AFR][1000 genomes]
rs73254565	0.83[AFR][1000 genomes]
rs73254568	0.83[AFR][1000 genomes]
rs73254580	0.83[AFR][1000 genomes]
rs73254583	0.83[AFR][1000 genomes]
rs73254586	0.83[AFR][1000 genomes]
rs73254588	0.83[AFR][1000 genomes]
rs73254589	0.83[AFR][1000 genomes]
rs73255979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264358	1.00[AMR][1000 genomes]
rs73264362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer 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 target site	22 gene(s)	inside rSNPs	diseases
3	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
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
2	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:31054800-31087200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:31055000-31086800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:31055600-31088000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:31061600-31090400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr14:31064400-31087800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:31064800-31086600	Strong transcription	Dnd41	blood
10	chr14:31064800-31087800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:31065600-31086600	Strong transcription	HepG2	liver
12	chr14:31065800-31083000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:31065800-31086800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:31065800-31087000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:31065800-31087600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:31066000-31082400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:31069000-31090600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:31069000-31090800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:31069600-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:31070400-31090600	Weak transcription	Spleen	Spleen
21	chr14:31071000-31090600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:31071000-31090600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:31071400-31090200	Weak transcription	Fetal Brain Female	brain
24	chr14:31071400-31090400	Weak transcription	Colonic Mucosa	Colon
25	chr14:31071400-31090800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:31072200-31083600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:31072200-31090400	Weak transcription	Aorta	Aorta
28	chr14:31072200-31090400	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:31072400-31090600	Weak transcription	Lung	lung
30	chr14:31072600-31083600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:31073800-31083400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:31073800-31090200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:31073800-31090200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr14:31073800-31090600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:31074400-31083400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:31074400-31083400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:31074400-31090200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:31074400-31090400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr14:31074400-31090400	Weak transcription	Fetal Intestine Small	intestine
40	chr14:31074400-31090400	Weak transcription	Fetal Stomach	stomach
41	chr14:31074400-31090600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:31074600-31090200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:31074800-31090200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:31075000-31090200	Weak transcription	Fetal Intestine Large	intestine
45	chr14:31078000-31090400	Weak transcription	Adipose Nuclei	Adipose
46	chr14:31078000-31090400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr14:31078200-31081200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:31078200-31082200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:31078200-31083400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:31078200-31085200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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