Variant report

Variant	rs7181169
Chromosome Location	chr15:83693513-83693514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83678350..83680791-chr15:83692946..83695679,3	MCF-7	breast:
2	chr15:83680193..83681715-chr15:83693273..83695238,2	MCF-7	breast:
3	chr15:83684576..83687517-chr15:83693136..83695627,2	K562	blood:
4	chr15:83680931..83684060-chr15:83687587..83694949,8	K562	blood:

Variant related genes	Relation type
ENSG00000169609	Chromatin interaction
ENSG00000260608	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10400812	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858074	0.95[ASN][1000 genomes]
rs12439782	0.87[EUR][1000 genomes]
rs12592391	0.95[ASN][1000 genomes]
rs12593316	0.82[ASN][1000 genomes]
rs12899522	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12900411	0.95[ASN][1000 genomes]
rs12901811	0.95[ASN][1000 genomes]
rs12902721	0.89[ASN][1000 genomes]
rs12903066	0.95[ASN][1000 genomes]
rs12904695	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906027	0.95[ASN][1000 genomes]
rs12906626	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12907032	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911706	0.95[ASN][1000 genomes]
rs12911891	0.95[ASN][1000 genomes]
rs12913130	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917594	0.94[ASN][1000 genomes]
rs13329195	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329269	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17158127	0.95[ASN][1000 genomes]
rs17507300	0.98[ASN][1000 genomes]
rs2084839	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2381030	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28485801	0.97[ASN][1000 genomes]
rs28580677	0.97[ASN][1000 genomes]
rs3087804	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34869943	0.92[ASN][1000 genomes]
rs35207081	0.95[ASN][1000 genomes]
rs35627116	0.94[ASN][1000 genomes]
rs36038412	0.95[ASN][1000 genomes]
rs4079029	0.97[ASN][1000 genomes]
rs61375537	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6603044	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6603046	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66606849	0.95[ASN][1000 genomes]
rs67482297	0.95[ASN][1000 genomes]
rs67822554	0.95[ASN][1000 genomes]
rs7163516	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7166645	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7170547	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7172665	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7177599	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750214	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7757	0.95[ASN][1000 genomes]
rs8031896	0.98[ASN][1000 genomes]
rs8040457	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8040998	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646239	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	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7181169	HDGFRP3	Cis_1M	lymphoblastoid	RTeQTL
rs7181169	BTBD1	cis	Nerve Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83681000-83700200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:83681000-83705000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:83681200-83698200	Weak transcription	NHLF	lung
4	chr15:83681200-83710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:83681400-83698000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:83681400-83698400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:83681600-83698200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:83681600-83698200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:83681600-83732000	Weak transcription	Stomach Mucosa	stomach
10	chr15:83682000-83708400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:83682200-83708600	Weak transcription	Fetal Heart	heart
12	chr15:83683000-83723000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr15:83683400-83726600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:83684600-83695200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:83685600-83693800	Strong transcription	Fetal Muscle Leg	muscle
16	chr15:83686600-83695800	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:83687000-83708200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:83687200-83697000	Strong transcription	Fetal Intestine Large	intestine
19	chr15:83687600-83698400	Weak transcription	Brain Substantia Nigra	brain
20	chr15:83687600-83701200	Weak transcription	Fetal Brain Female	brain
21	chr15:83687600-83709600	Weak transcription	Brain Angular Gyrus	brain
22	chr15:83687800-83694000	Strong transcription	Fetal Intestine Small	intestine
23	chr15:83688000-83698600	Weak transcription	NH-A	brain
24	chr15:83688800-83708800	Weak transcription	Fetal Brain Male	brain
25	chr15:83689200-83695000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr15:83689200-83695000	Weak transcription	Thymus	Thymus
27	chr15:83689200-83695600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr15:83689200-83695800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr15:83689200-83695800	Weak transcription	Pancreas	Pancrea
30	chr15:83689200-83696200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:83689200-83696200	Weak transcription	Gastric	stomach
32	chr15:83689200-83698200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:83689200-83698200	Weak transcription	Aorta	Aorta
34	chr15:83689200-83698200	Weak transcription	Esophagus	oesophagus
35	chr15:83689200-83698200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr15:83689200-83698200	Weak transcription	Small Intestine	intestine
37	chr15:83689200-83698200	Weak transcription	Spleen	Spleen
38	chr15:83689200-83698400	Weak transcription	Right Ventricle	heart
39	chr15:83689200-83705200	Weak transcription	Psoas Muscle	Psoas
40	chr15:83689400-83695800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:83689400-83696200	Weak transcription	Fetal Kidney	kidney
42	chr15:83689400-83696200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr15:83689400-83698200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr15:83689400-83698200	Weak transcription	Ovary	ovary
45	chr15:83689400-83705000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:83689400-83708600	Weak transcription	NHEK	skin
47	chr15:83689600-83696000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:83689600-83696200	Weak transcription	Adipose Nuclei	Adipose
49	chr15:83689800-83695000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr15:83689800-83696200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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