Variant report

Variant	rs749748
Chromosome Location	chr15:40349909-40349910
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40348588..40353195-chr15:40399054..40401476,4	MCF-7	breast:
2	chr15:40343498..40345007-chr15:40348613..40351554,2	K562	blood:
3	chr15:40347622..40350963-chr15:40359226..40362584,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2AK4-2	chr15:40348654-40350627	XLOC_011219

Variant related genes	Relation type
ENSG00000104081	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1010879	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070250	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11631442	1.00[ASN][1000 genomes]
rs16924528	1.00[ASN][1000 genomes]
rs17722502	1.00[ASN][1000 genomes]
rs17722526	1.00[ASN][1000 genomes]
rs17723133	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2412478	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444847	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28515996	1.00[ASN][1000 genomes]
rs28736699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28826672	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35781999	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923235	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4497657	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924410	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4924413	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924417	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62004114	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62004158	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71132133	1.00[ASN][1000 genomes]
rs7183977	1.00[ASN][1000 genomes]
rs72731415	1.00[ASN][1000 genomes]
rs7497289	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026641	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs937213	1.00[ASN][1000 genomes]
rs9919974	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40337800-40355600	Weak transcription	Brain Angular Gyrus	brain
2	chr15:40337800-40355600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr15:40343600-40355400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr15:40344000-40353200	Weak transcription	Fetal Lung	lung
5	chr15:40345600-40358800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:40346000-40367400	Weak transcription	K562	blood
7	chr15:40346200-40372800	Weak transcription	Fetal Kidney	kidney
8	chr15:40347200-40352200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:40347400-40355400	Weak transcription	NH-A	brain
10	chr15:40347600-40361000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr15:40347800-40350600	Weak transcription	Osteobl	bone
12	chr15:40347800-40350800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:40348000-40350000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:40348000-40350600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:40348000-40350600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:40348000-40351000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:40348000-40355000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:40348000-40355200	Weak transcription	Brain Anterior Caudate	brain
19	chr15:40348000-40355400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:40348000-40361000	Weak transcription	Fetal Intestine Large	intestine
21	chr15:40348200-40350000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:40348200-40350600	Weak transcription	NHDF-Ad	bronchial
23	chr15:40348200-40357200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr15:40348400-40350400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:40348400-40352200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:40348400-40352400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:40348400-40353200	Weak transcription	Gastric	stomach
28	chr15:40348400-40353200	Weak transcription	Lung	lung
29	chr15:40348400-40355000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:40348400-40355000	Weak transcription	Right Ventricle	heart
31	chr15:40348400-40355200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:40348400-40355400	Weak transcription	Brain Germinal Matrix	brain
33	chr15:40348400-40355600	Weak transcription	Brain Hippocampus Middle	brain
34	chr15:40348400-40357000	Weak transcription	Spleen	Spleen
35	chr15:40348400-40358400	Enhancers	Fetal Thymus	thymus
36	chr15:40348400-40361000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr15:40348600-40350600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:40348600-40350600	Weak transcription	HSMM	muscle
39	chr15:40348600-40350600	Weak transcription	NHLF	lung
40	chr15:40348600-40350800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:40348600-40353000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:40348600-40354800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr15:40348600-40355400	Weak transcription	Left Ventricle	heart
44	chr15:40348600-40355600	Weak transcription	Colonic Mucosa	Colon
45	chr15:40348600-40361000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr15:40348600-40365800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:40348800-40350000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr15:40348800-40350200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:40348800-40350200	Weak transcription	Hela-S3	cervix
50	chr15:40348800-40350400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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