Variant report

Variant	rs1611896
Chromosome Location	chr15:45476519-45476520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:45476431-45481208	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:45456567..45458793-chr15:45475778..45478216,2	MCF-7	breast:
2	chr15:45470539..45473664-chr15:45475059..45478000,3	MCF-7	breast:
3	chr15:45474491..45476700-chr15:45492364..45494168,2	K562	blood:
4	chr15:45474753..45476915-chr15:45477928..45479578,2	MCF-7	breast:
5	chr15:45458109..45460047-chr15:45475007..45477207,2	MCF-7	breast:
6	chr15:45461602..45463661-chr15:45476012..45479858,4	K562	blood:
7	chr15:45465584..45467197-chr15:45475390..45477446,2	MCF-7	breast:
8	chr15:45475968..45478000-chr15:45488455..45490164,2	K562	blood:

No data

Variant related genes	Relation type
SHF	TF binding region
ENSG00000259519	Chromatin interaction
ENSG00000138606	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000259539	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10450971	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12440127	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12898733	0.90[ASN][1000 genomes]
rs1617207	0.92[ASN][1000 genomes]
rs1625404	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1625779	0.94[ASN][1000 genomes]
rs1628717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1632144	0.94[ASN][1000 genomes]
rs1648280	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1648284	0.90[ASN][1000 genomes]
rs1648288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1648290	0.94[ASN][1000 genomes]
rs1648291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1648292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1648296	0.90[ASN][1000 genomes]
rs1648297	0.81[ASN][1000 genomes]
rs1648298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1648299	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1648300	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1648301	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1648314	0.94[ASN][1000 genomes]
rs1648315	0.93[ASN][1000 genomes]
rs1706779	0.81[ASN][1000 genomes]
rs1706819	0.94[ASN][1000 genomes]
rs1706823	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1706828	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1706833	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1706836	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2292468	0.82[ASN][1000 genomes]
rs2413777	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2458238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2458240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2458241	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2467839	0.90[ASN][1000 genomes]
rs2668738	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2668750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2899376	0.91[ASN][1000 genomes]
rs2899377	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4775824	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58701250	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7167481	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs732622	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs938129	0.81[ASN][1000 genomes]
rs938130	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
6	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45459800-45478000	Weak transcription	Aorta	Aorta
2	chr15:45460000-45477200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr15:45460000-45478600	Weak transcription	Thymus	Thymus
4	chr15:45460200-45478000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr15:45460600-45478000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:45460600-45478200	Weak transcription	Adipose Nuclei	Adipose
7	chr15:45462200-45477200	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:45466000-45478800	Weak transcription	Right Ventricle	heart
9	chr15:45466400-45477600	Weak transcription	Colon Smooth Muscle	Colon
10	chr15:45467600-45477400	Weak transcription	Brain Angular Gyrus	brain
11	chr15:45467800-45477400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:45468000-45477800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:45470400-45476800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:45471400-45477000	Enhancers	HSMM	muscle
15	chr15:45471400-45477400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr15:45471600-45478000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:45471800-45478000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:45472200-45476800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:45472800-45477400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:45473000-45478200	Weak transcription	NH-A	brain
21	chr15:45473200-45477400	Enhancers	Fetal Brain Male	brain
22	chr15:45473200-45478200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr15:45473200-45480400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr15:45473400-45476600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:45473400-45477000	Weak transcription	Esophagus	oesophagus
26	chr15:45473400-45478200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr15:45473600-45476800	Weak transcription	Colonic Mucosa	Colon
28	chr15:45473600-45477000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr15:45473600-45477800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:45473600-45478600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr15:45473800-45476800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:45473800-45477400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr15:45473800-45477800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:45473800-45478200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:45473800-45478800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr15:45474000-45478200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr15:45474000-45478600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr15:45474200-45477000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr15:45474200-45477600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:45475200-45476600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr15:45475400-45478600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:45475600-45476600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:45475600-45478000	Enhancers	Duodenum Mucosa	Duodenum
44	chr15:45475600-45478000	Weak transcription	Fetal Intestine Large	intestine
45	chr15:45475600-45478400	Genic enhancers	Fetal Stomach	stomach
46	chr15:45475600-45478600	Enhancers	Fetal Muscle Trunk	muscle
47	chr15:45475600-45478800	Weak transcription	Stomach Mucosa	stomach
48	chr15:45475800-45476800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:45475800-45476800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr15:45475800-45476800	Weak transcription	Fetal Intestine Small	intestine

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