Variant report

Variant	rs13224082
Chromosome Location	chr7:116515781-116515782
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116515300..116517420-chr7:116591402..116594078,3	K562	blood:
2	chr7:116501025..116504036-chr7:116513935..116518644,4	K562	blood:
3	chr7:116501242..116506265-chr7:116510058..116522773,18	MCF-7	breast:
4	chr7:116502425..116505177-chr7:116515500..116518644,3	K562	blood:
5	chr7:116515467..116517553-chr7:116591140..116593900,3	K562	blood:
6	chr7:116500082..116503842-chr7:116515531..116518522,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214188	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000198898	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10487354	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10487355	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10487356	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10953829	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10953830	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12533164	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12533755	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12665952	0.95[EUR][1000 genomes]
rs12669383	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12670056	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12670264	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12671827	0.92[EUR][1000 genomes]
rs12671828	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12672008	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12673979	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12674017	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706108	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12706109	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12706110	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12706112	0.96[EUR][1000 genomes]
rs12706115	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12706120	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706121	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12706122	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12706123	0.82[EUR][1000 genomes]
rs13222845	0.92[EUR][1000 genomes]
rs13228847	0.95[EUR][1000 genomes]
rs13239000	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237720	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2299441	0.96[EUR][1000 genomes]
rs2301649	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3173936	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3807999	0.97[EUR][1000 genomes]
rs4808	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7808129	0.81[EUR][1000 genomes]
rs9791492	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9791721	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116503800-116554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116504200-116516800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:116504200-116516800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:116504200-116516800	Weak transcription	Esophagus	oesophagus
5	chr7:116504400-116528800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:116504400-116533000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:116504600-116540800	Weak transcription	Fetal Kidney	kidney
8	chr7:116505000-116516400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:116505000-116517000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:116505000-116525200	Weak transcription	NHDF-Ad	bronchial
11	chr7:116505000-116533600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:116505000-116537400	Weak transcription	Brain Germinal Matrix	brain
13	chr7:116505200-116516400	Weak transcription	Fetal Lung	lung
14	chr7:116506000-116529200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:116507000-116516800	Weak transcription	Hela-S3	cervix
17	chr7:116507600-116528000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:116509600-116516600	Weak transcription	Fetal Brain Female	brain
19	chr7:116510000-116516400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:116510400-116516600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:116510600-116516200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:116511000-116516800	Weak transcription	Brain Substantia Nigra	brain
23	chr7:116511200-116516400	Weak transcription	Brain Angular Gyrus	brain
24	chr7:116511200-116516600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:116511200-116528800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:116511400-116525400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:116511400-116528000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:116511400-116554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:116512000-116516400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:116512000-116516600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:116512000-116516800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:116512000-116545400	Weak transcription	NHLF	lung
33	chr7:116512200-116516400	Weak transcription	Stomach Mucosa	stomach
34	chr7:116512200-116516600	Weak transcription	Liver	Liver
35	chr7:116512200-116516600	Weak transcription	NH-A	brain
36	chr7:116512200-116519000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:116512200-116529400	Weak transcription	Osteobl	bone
38	chr7:116512800-116519000	Strong transcription	Primary B cells from cord blood	blood
39	chr7:116513200-116528400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:116513400-116515800	Weak transcription	Fetal Intestine Large	intestine
41	chr7:116513400-116516600	Weak transcription	Fetal Intestine Small	intestine
42	chr7:116513400-116518000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr7:116513600-116528600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:116513800-116517000	Strong transcription	GM12878-XiMat	blood
45	chr7:116514000-116516400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:116514000-116516600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:116514000-116525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:116514200-116516000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr7:116514200-116528200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:116514400-116516400	Weak transcription	Brain Anterior Caudate	brain

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