Variant report

Variant	rs4497657
Chromosome Location	chr15:40359433-40359434
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40357794..40362220-chr15:40389488..40392528,3	MCF-7	breast:
2	chr15:40352649..40354633-chr15:40358305..40361225,2	K562	blood:
3	chr15:40351858..40353896-chr15:40357705..40360243,2	MCF-7	breast:
4	chr15:40358638..40360485-chr15:40371045..40374083,3	K562	blood:
5	chr15:40358140..40360248-chr15:40371416..40374083,2	K562	blood:
6	chr15:40358773..40361037-chr15:40403847..40405701,2	K562	blood:
7	chr15:40347622..40350963-chr15:40359226..40362584,4	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2AK4-2	chr15:40357422-40359491	ENSG00000248508
2	lnc-EIF2AK4-2	chr15:40357422-40359902	XLOC_011219
3	lnc-EIF2AK4-2	chr15:40357422-40359819	XLOC_011219
4	lnc-EIF2AK4-2	chr15:40357422-40359710	NONHSAT041794
5	lnc-EIF2AK4-2	chr15:40357422-40359710	NONHSAT041796

No data

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1010879	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070250	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11631442	1.00[ASN][1000 genomes]
rs12899649	1.00[CHB][hapmap]
rs12912442	1.00[CHB][hapmap]
rs16924528	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17722502	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17722526	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17723133	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2412456	1.00[CHB][hapmap]
rs2412478	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444847	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28515996	1.00[ASN][1000 genomes]
rs28736699	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28826672	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35781999	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4924413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924417	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62004114	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62004158	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71132133	1.00[ASN][1000 genomes]
rs7181230	0.87[CEU][hapmap]
rs7183977	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72731415	1.00[ASN][1000 genomes]
rs7497289	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749748	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026641	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs937213	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9919974	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972424	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40346000-40367400	Weak transcription	K562	blood
2	chr15:40346200-40372800	Weak transcription	Fetal Kidney	kidney
3	chr15:40347600-40361000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:40348000-40361000	Weak transcription	Fetal Intestine Large	intestine
5	chr15:40348400-40361000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:40348600-40361000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:40348600-40365800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:40348800-40360600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:40348800-40365400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:40349000-40360600	Weak transcription	Fetal Heart	heart
11	chr15:40352000-40361000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:40353800-40361000	Weak transcription	Fetal Intestine Small	intestine
13	chr15:40353800-40361600	Weak transcription	Gastric	stomach
14	chr15:40355600-40360400	Weak transcription	Lung	lung
15	chr15:40355800-40360400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:40355800-40361200	Weak transcription	Brain Substantia Nigra	brain
17	chr15:40355800-40361400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:40356000-40360200	Weak transcription	Adipose Nuclei	Adipose
19	chr15:40356000-40360400	Weak transcription	Left Ventricle	heart
20	chr15:40356000-40360600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:40356200-40361000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:40356200-40361600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr15:40356600-40360400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:40356600-40360400	Weak transcription	Psoas Muscle	Psoas
25	chr15:40356600-40361000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr15:40356600-40361000	Weak transcription	Colonic Mucosa	Colon
27	chr15:40356600-40361000	Weak transcription	Esophagus	oesophagus
28	chr15:40356600-40361000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr15:40356600-40361400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:40356600-40361400	Weak transcription	Placenta	Placenta
31	chr15:40356600-40361400	Weak transcription	Right Atrium	heart
32	chr15:40356600-40361400	Weak transcription	Right Ventricle	heart
33	chr15:40356600-40362000	Weak transcription	Brain Anterior Caudate	brain
34	chr15:40356800-40361000	Weak transcription	Colon Smooth Muscle	Colon
35	chr15:40357000-40360400	Weak transcription	Fetal Muscle Leg	muscle
36	chr15:40357000-40361000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:40357000-40361000	Weak transcription	Fetal Stomach	stomach
38	chr15:40357000-40361600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:40357200-40360600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:40357200-40360600	Weak transcription	Brain Hippocampus Middle	brain
41	chr15:40357200-40361000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr15:40357200-40361000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:40357200-40361000	Weak transcription	NHLF	lung
44	chr15:40357200-40361200	Weak transcription	Fetal Brain Male	brain
45	chr15:40357400-40360400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr15:40357400-40360400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr15:40357400-40360800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr15:40357400-40360800	Weak transcription	HUVEC	blood vessel
49	chr15:40357400-40361000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:40357400-40361000	Weak transcription	Spleen	Spleen

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