Variant report

Variant	rs7166819
Chromosome Location	chr15:78350600-78350601
allele	A/T
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	EP300	chr15:78349911-78350801	SK-N-SH	brain:	n/a	n/a
2	GATA2	chr15:78350054-78350723	SH-SY5Y	brain:	n/a	n/a
3	MXI1	chr15:78349940-78351085	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:78332545..78335150-chr15:78348925..78351809,2	MCF-7	breast:
2	chr15:78348877..78350623-chr15:78357626..78359289,2	MCF-7	breast:
3	chr15:78347136..78350100-chr15:78350153..78352439,2	K562	blood:
4	chr15:78349057..78351181-chr15:78355340..78357401,2	MCF-7	breast:

Variant related genes	Relation type
TBC1D2B	TF binding region
ENSG00000167202	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11631578	0.99[ASN][1000 genomes]
rs11634607	0.99[ASN][1000 genomes]
rs11638311	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11852768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148365	0.97[ASN][1000 genomes]
rs12591418	0.99[ASN][1000 genomes]
rs12899061	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12901812	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12907701	0.96[ASN][1000 genomes]
rs12907814	0.98[ASN][1000 genomes]
rs12916362	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348257	0.97[ASN][1000 genomes]
rs1442293	0.96[ASN][1000 genomes]
rs1837913	0.96[ASN][1000 genomes]
rs2028546	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2044099	0.81[ASN][1000 genomes]
rs2241885	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2867985	0.96[ASN][1000 genomes]
rs2903702	0.98[ASN][1000 genomes]
rs3803380	0.93[ASN][1000 genomes]
rs4886553	0.99[ASN][1000 genomes]
rs4886554	0.99[ASN][1000 genomes]
rs4886555	0.95[ASN][1000 genomes]
rs4886994	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4886996	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4886999	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4887000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56317829	0.93[ASN][1000 genomes]
rs57220134	0.96[ASN][1000 genomes]
rs58578288	0.97[ASN][1000 genomes]
rs62011511	0.97[ASN][1000 genomes]
rs67559383	0.88[AFR][1000 genomes]
rs7170746	0.99[ASN][1000 genomes]
rs7173128	0.86[ASN][1000 genomes]
rs7174489	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7181594	0.99[ASN][1000 genomes]
rs8029562	0.93[ASN][1000 genomes]
rs8030873	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9047	0.95[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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1051558	chr15:78315542-78364947	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78296200-78358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:78309200-78354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr15:78327600-78351400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:78343200-78354200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:78344400-78352000	Genic enhancers	Fetal Intestine Small	intestine
6	chr15:78344800-78357600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:78344800-78359800	Weak transcription	Fetal Brain Female	brain
8	chr15:78345000-78352000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:78345000-78354200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:78345200-78351400	Weak transcription	Fetal Kidney	kidney
11	chr15:78345600-78351800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:78346200-78354200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:78346400-78353200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr15:78346400-78354200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr15:78346400-78356600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:78346600-78353000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:78346600-78354200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr15:78346800-78354400	Enhancers	Primary B cells from cord blood	blood
19	chr15:78347000-78351200	Enhancers	HSMM	muscle
20	chr15:78347000-78351400	Enhancers	Fetal Muscle Leg	muscle
21	chr15:78347000-78352800	Enhancers	Stomach Mucosa	stomach
22	chr15:78347000-78357400	Enhancers	Fetal Thymus	thymus
23	chr15:78347200-78352200	Enhancers	Small Intestine	intestine
24	chr15:78347400-78350800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:78347400-78351400	Enhancers	HSMMtube	muscle
26	chr15:78347400-78352200	Enhancers	Primary hematopoietic stem cells	blood
27	chr15:78347400-78352400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:78347400-78352400	Enhancers	Fetal Intestine Large	intestine
29	chr15:78347400-78352600	Enhancers	Brain Anterior Caudate	brain
30	chr15:78347400-78354000	Enhancers	NHDF-Ad	bronchial
31	chr15:78347400-78354200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr15:78347400-78354200	Enhancers	Adipose Nuclei	Adipose
33	chr15:78347400-78367800	Enhancers	Placenta	Placenta
34	chr15:78347600-78352200	Enhancers	Colon Smooth Muscle	Colon
35	chr15:78347600-78352600	Enhancers	Brain Cingulate Gyrus	brain
36	chr15:78347600-78352800	Enhancers	Pancreas	Pancrea
37	chr15:78347600-78353000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:78347800-78350800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:78347800-78351000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr15:78347800-78352000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr15:78348000-78355400	Enhancers	Primary B cells from peripheral blood	blood
42	chr15:78348200-78350600	Enhancers	Osteobl	bone
43	chr15:78348200-78352400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr15:78348200-78352600	Enhancers	HUVEC	blood vessel
45	chr15:78348200-78352800	Enhancers	Fetal Muscle Trunk	muscle
46	chr15:78348200-78353000	Enhancers	Dnd41	blood
47	chr15:78348400-78354200	Weak transcription	Fetal Brain Male	brain
48	chr15:78349000-78351200	Enhancers	Thymus	Thymus
49	chr15:78349200-78354200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:78349200-78354200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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