Variant report

Variant	rs34754163
Chromosome Location	chr15:40308161-40308162
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:40308153-40308167	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40306788..40308430-chr15:40313350..40316337,2	K562	blood:
2	chr15:40302289..40304132-chr15:40306994..40309622,2	K562	blood:

Variant related genes	Relation type
EIF2AK4	TF binding region
ENSG00000128829	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12164905	1.00[ASN][1000 genomes]
rs12899936	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12912499	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28714278	1.00[ASN][1000 genomes]
rs34513107	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34519780	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35602605	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35707718	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55735426	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:40293000-40315000	Strong transcription	Stomach Smooth Muscle	stomach
3	chr15:40296000-40311400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr15:40296200-40313000	Weak transcription	Psoas Muscle	Psoas
5	chr15:40296400-40313200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:40296400-40325200	Weak transcription	Hela-S3	cervix
7	chr15:40299000-40308400	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:40301000-40311600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr15:40301000-40322000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:40301200-40313000	Weak transcription	K562	blood
11	chr15:40301200-40313200	Weak transcription	Fetal Heart	heart
12	chr15:40301800-40311200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr15:40303000-40329600	Strong transcription	Liver	Liver
14	chr15:40303200-40308400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:40303200-40310600	Weak transcription	Gastric	stomach
16	chr15:40303600-40309000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr15:40303800-40308600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:40303800-40320600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:40304000-40308400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr15:40304000-40310000	Weak transcription	Brain Angular Gyrus	brain
21	chr15:40304200-40309000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr15:40304200-40309400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:40304400-40308200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr15:40304400-40308200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
25	chr15:40304400-40308600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr15:40304400-40311200	Weak transcription	Colonic Mucosa	Colon
27	chr15:40304600-40313000	Weak transcription	Small Intestine	intestine
28	chr15:40305200-40308400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:40305200-40311200	Weak transcription	Colon Smooth Muscle	Colon
30	chr15:40305200-40330200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr15:40305600-40308200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr15:40306000-40309800	Weak transcription	Right Ventricle	heart
33	chr15:40306200-40310000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr15:40306400-40309200	Weak transcription	Fetal Kidney	kidney
35	chr15:40306600-40311200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr15:40306800-40308200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:40306800-40308200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr15:40306800-40308400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:40306800-40308400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:40306800-40309000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr15:40306800-40310600	Weak transcription	Brain Anterior Caudate	brain
42	chr15:40306800-40311000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr15:40306800-40311000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:40306800-40311200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr15:40306800-40311200	Weak transcription	Brain Substantia Nigra	brain
46	chr15:40306800-40311200	Weak transcription	Dnd41	blood
47	chr15:40306800-40313000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:40306800-40313000	Weak transcription	Fetal Brain Male	brain
49	chr15:40306800-40313800	Strong transcription	Adipose Nuclei	Adipose
50	chr15:40306800-40313800	Strong transcription	Monocytes-CD14+_RO01746	blood

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