Variant report

Variant	rs8026641
Chromosome Location	chr15:40338861-40338862
allele	A/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40336203..40339126-chr15:40530089..40532652,2	MCF-7	breast:
2	chr15:40337530..40340162-chr15:40384154..40386428,2	MCF-7	breast:
3	chr15:40331030..40333143-chr15:40336007..40339016,3	MCF-7	breast:
4	chr15:40336254..40340864-chr15:40394731..40398446,8	MCF-7	breast:
5	chr15:40337190..40339316-chr15:40452103..40454562,3	K562	blood:
6	chr15:40331646..40335428-chr15:40336590..40339827,4	K562	blood:
7	chr15:40329946..40331634-chr15:40336636..40339061,3	K562	blood:
8	chr15:40329737..40332580-chr15:40336644..40338939,3	MCF-7	breast:
9	chr15:40338671..40341082-chr15:40391017..40392708,2	MCF-7	breast:
10	chr15:40337354..40339667-chr15:40397161..40399729,4	MCF-7	breast:
11	chr15:40337627..40341020-chr15:40341608..40343639,3	K562	blood:
12	chr15:40336937..40340971-chr15:40343981..40345656,3	K562	blood:
13	chr15:40316792..40319145-chr15:40336585..40338898,2	K562	blood:
14	chr15:40338471..40341053-chr15:40396995..40399108,2	K562	blood:
15	chr15:40329946..40333146-chr15:40335941..40339061,6	K562	blood:
16	chr15:40335189..40340116-chr15:40397333..40401366,6	K562	blood:
17	chr15:40337344..40339688-chr15:40344036..40346311,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137843	Chromatin interaction
ENSG00000156970	Chromatin interaction
ENSG00000140319	Chromatin interaction
ENSG00000104081	Chromatin interaction
ENSG00000248508	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1010879	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11070250	0.87[EUR][1000 genomes]
rs11631442	0.83[ASN][1000 genomes]
rs12899649	1.00[CHB][hapmap]
rs12912442	1.00[CHB][hapmap]
rs16924528	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17722502	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17722526	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17723133	1.00[CEU][hapmap];0.87[GIH][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2412456	1.00[CHB][hapmap]
rs2412478	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28444847	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28515996	0.83[ASN][1000 genomes]
rs28736699	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28826672	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35781999	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3923235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4497657	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4924410	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4924417	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62004114	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62004158	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71132133	0.83[ASN][1000 genomes]
rs7181230	0.87[CEU][hapmap]
rs7183977	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs72731415	0.83[ASN][1000 genomes]
rs7497289	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs749748	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs937213	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs9919974	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8026641	EIF2AK4	cis	Esophagus Muscularis	GTEx
rs8026641	SRP14	cis	Liver	GTEx
rs8026641	SRP14	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40331800-40339400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:40332000-40339800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:40332400-40339400	Weak transcription	Gastric	stomach
4	chr15:40332400-40339400	Weak transcription	Right Atrium	heart
5	chr15:40336200-40343400	Enhancers	Fetal Heart	heart
6	chr15:40336600-40339400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr15:40336600-40340600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:40336600-40341000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:40336600-40341000	Enhancers	HSMMtube	muscle
10	chr15:40336600-40341200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr15:40336600-40341800	Enhancers	Fetal Thymus	thymus
12	chr15:40336600-40342800	Enhancers	Spleen	Spleen
13	chr15:40336600-40343000	Enhancers	Primary B cells from peripheral blood	blood
14	chr15:40336800-40341000	Enhancers	Fetal Stomach	stomach
15	chr15:40336800-40341600	Enhancers	Placenta	Placenta
16	chr15:40336800-40342800	Enhancers	Primary B cells from cord blood	blood
17	chr15:40336800-40343400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:40337000-40339000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr15:40337000-40339400	Enhancers	Colonic Mucosa	Colon
20	chr15:40337000-40340400	Enhancers	Stomach Mucosa	stomach
21	chr15:40337000-40340800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:40337000-40340800	Enhancers	Fetal Lung	lung
23	chr15:40337000-40340800	Enhancers	HMEC	breast
24	chr15:40337000-40340800	Enhancers	HUVEC	blood vessel
25	chr15:40337000-40340800	Enhancers	NHLF	lung
26	chr15:40337000-40342200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr15:40337000-40344800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr15:40337400-40339400	Weak transcription	Right Ventricle	heart
29	chr15:40337400-40340200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr15:40337400-40342600	Enhancers	Primary hematopoietic stem cells	blood
31	chr15:40337400-40342600	Enhancers	Adipose Nuclei	Adipose
32	chr15:40337400-40343600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr15:40337600-40339400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:40337600-40339400	Enhancers	NHEK	skin
35	chr15:40337600-40340400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:40337600-40341000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:40337600-40341000	Enhancers	HSMM	muscle
38	chr15:40337600-40341200	Enhancers	Fetal Muscle Trunk	muscle
39	chr15:40337600-40342800	Weak transcription	Fetal Brain Male	brain
40	chr15:40337800-40339000	Enhancers	Stomach Smooth Muscle	stomach
41	chr15:40337800-40339200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr15:40337800-40339200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr15:40337800-40339200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr15:40337800-40339400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:40337800-40339400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:40337800-40339400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:40337800-40339400	Enhancers	Hela-S3	cervix
48	chr15:40337800-40339400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr15:40337800-40339800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr15:40337800-40340000	Weak transcription	Brain Anterior Caudate	brain

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