Variant report

Variant	rs34945944
Chromosome Location	chr15:75134478-75134479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr15:75134466-75136193	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr15:75134451-75134799	HepG2	liver:	n/a	n/a
3	MXI1	chr15:75134338-75137403	SK-N-SH	brain:	n/a	chr15:75135661-75135670 chr15:75135663-75135672
4	POLR2A	chr15:75134277-75136919	K562	blood:	n/a	n/a
5	MAZ	chr15:75134383-75135975	IMR90	lung:	n/a	chr15:75135660-75135675 chr15:75135765-75135774 chr15:75135660-75135669 chr15:75135661-75135671 chr15:75135774-75135784
6	MAFF	chr15:75134465-75134539	K562	blood:	n/a	n/a
7	MXI1	chr15:75134362-75136089	IMR90	lung:	n/a	chr15:75135661-75135670 chr15:75135663-75135672
8	ZNF263	chr15:75134455-75136057	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74926089..74928915-chr15:75133890..75136502,2	MCF-7	breast:
2	chr15:75090773..75092693-chr15:75133525..75135797,3	K562	blood:
3	chr15:75079215..75085047-chr15:75133215..75137478,7	MCF-7	breast:
4	chr15:75115272..75120114-chr15:75130983..75135707,7	K562	blood:
5	chr15:74906299..74909390-chr15:75133726..75137690,7	MCF-7	breast:
6	chr15:75133989..75136127-chr15:75187296..75189781,2	K562	blood:
7	chr15:74832995..74834922-chr15:75133837..75135469,2	K562	blood:
8	chr15:75129767..75136088-chr15:75163908..75167881,8	K562	blood:
9	chr15:75133947..75135664-chr15:75246136..75249268,3	MCF-7	breast:
10	chr15:75091193..75092930-chr15:75133955..75135797,2	K562	blood:
11	chr15:75132063..75136088-chr15:75165447..75167881,5	K562	blood:
12	chr15:75105168..75109047-chr15:75134120..75137766,4	K562	blood:
13	chr15:75072228..75074857-chr15:75134119..75137193,5	K562	blood:
14	chr15:75106165..75113668-chr15:75132311..75136608,10	MCF-7	breast:
15	chr15:75133683..75136875-chr15:75181140..75184004,7	K562	blood:
16	chr15:75133406..75136691-chr15:75228046..75231533,6	MCF-7	breast:
17	chr15:75090900..75093717-chr15:75134239..75137508,3	MCF-7	breast:
18	chr15:75133950..75137156-chr15:75180779..75184661,9	MCF-7	breast:
19	chr15:75134051..75136456-chr15:75197581..75199707,3	K562	blood:
20	chr15:75073376..75079113-chr15:75130007..75137097,15	MCF-7	breast:
21	chr15:75132852..75135633-chr15:75196341..75200571,3	K562	blood:
22	chr15:75133790..75137554-chr15:75195204..75200578,14	MCF-7	breast:
23	chr15:75132595..75137581-chr15:75190842..75194074,4	K562	blood:
24	chr15:75134049..75139648-chr15:75161531..75167020,13	MCF-7	breast:
25	chr15:75131329..75142649-chr15:75180088..75200119,60	MCF-7	breast:
26	chr15:75131716..75139878-chr15:75227772..75233177,11	MCF-7	breast:
27	chr15:75072623..75074857-chr15:75134348..75137142,2	K562	blood:

No data

Variant related genes	Relation type
ULK3	TF binding region
ENSG00000179151	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000264386	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000140497	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000179361	Chromatin interaction
ENSG00000260824	Chromatin interaction
ENSG00000213578	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000178741	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16973048	0.98[AFR][1000 genomes]
rs56104325	0.93[AFR][1000 genomes]
rs60757109	0.98[AFR][1000 genomes]
rs61671857	0.80[AFR][1000 genomes]
rs74025850	0.80[AFR][1000 genomes]
rs74025851	0.89[AFR][1000 genomes]
rs74025852	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv904381	chr15:75108636-75242155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv904382	chr15:75129594-75140854	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv569992	chr15:75132319-75137868	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	21 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	chr15:75121400-75134600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:75121800-75134600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:75125000-75134600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:75125200-75134800	Weak transcription	Aorta	Aorta
5	chr15:75126800-75134600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:75132200-75134600	Enhancers	Fetal Brain Male	brain
7	chr15:75132600-75134600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr15:75132800-75134600	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr15:75133000-75134600	Genic enhancers	Fetal Muscle Leg	muscle
10	chr15:75133200-75134600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr15:75133200-75134600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr15:75133400-75134600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:75133400-75134600	Enhancers	Pancreas	Pancrea
14	chr15:75133400-75134800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr15:75133400-75135000	Enhancers	Fetal Heart	heart
16	chr15:75133600-75134600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:75133600-75134600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:75133600-75134600	Weak transcription	Fetal Kidney	kidney
19	chr15:75133600-75135200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
20	chr15:75133800-75134600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr15:75133800-75134600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:75133800-75134600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:75133800-75134600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr15:75133800-75134600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr15:75133800-75134800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:75133800-75134800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr15:75133800-75134800	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr15:75133800-75134800	Flanking Active TSS	Fetal Brain Female	brain
29	chr15:75133800-75134800	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr15:75133800-75134800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
31	chr15:75133800-75134800	Enhancers	Placenta	Placenta
32	chr15:75133800-75134800	Genic enhancers	Fetal Stomach	stomach
33	chr15:75134000-75134600	Enhancers	Primary T cells from cord blood	blood
34	chr15:75134000-75134600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr15:75134000-75134600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr15:75134000-75134600	Enhancers	HepG2	liver
37	chr15:75134000-75134600	Enhancers	K562	blood
38	chr15:75134000-75134800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr15:75134000-75134800	Enhancers	Stomach Mucosa	stomach
40	chr15:75134000-75135000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:75134000-75135000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr15:75134200-75134600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr15:75134200-75134600	Enhancers	Primary B cells from cord blood	blood
44	chr15:75134200-75134600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:75134200-75134800	Enhancers	Primary B cells from peripheral blood	blood
46	chr15:75134200-75134800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:75134200-75134800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr15:75134200-75134800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:75134200-75134800	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr15:75134200-75134800	Enhancers	Left Ventricle	heart

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