Variant report

Variant	rs2299441
Chromosome Location	chr7:116504829-116504830
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116502425..116505177-chr7:116515500..116518644,3	K562	blood:
2	chr7:116502823..116504965-chr7:116592665..116594956,3	K562	blood:
3	chr7:116501242..116506265-chr7:116510058..116522773,18	MCF-7	breast:
4	chr7:116501910..116504088-chr7:116504154..116506908,3	K562	blood:
5	chr7:116502166..116506934-chr7:116591377..116594260,5	MCF-7	breast:
6	chr7:116366893..116368535-chr7:116504470..116506791,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000004866	Chromatin interaction
ENSG00000235945	Chromatin interaction
ENSG00000227199	Chromatin interaction
ENSG00000214188	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	0.96[EUR][1000 genomes]
rs10487355	0.90[EUR][1000 genomes]
rs10487356	0.92[EUR][1000 genomes]
rs10953829	0.96[EUR][1000 genomes]
rs10953830	0.95[EUR][1000 genomes]
rs12533164	0.96[EUR][1000 genomes]
rs12533755	0.96[EUR][1000 genomes]
rs12665952	0.94[EUR][1000 genomes]
rs12669383	0.89[EUR][1000 genomes]
rs12670056	0.92[EUR][1000 genomes]
rs12670264	0.92[EUR][1000 genomes]
rs12671827	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12671828	0.92[EUR][1000 genomes]
rs12672008	0.92[EUR][1000 genomes]
rs12673979	0.90[EUR][1000 genomes]
rs12674017	0.95[EUR][1000 genomes]
rs12706108	0.97[EUR][1000 genomes]
rs12706109	0.97[EUR][1000 genomes]
rs12706110	0.96[EUR][1000 genomes]
rs12706112	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12706115	0.92[EUR][1000 genomes]
rs12706120	0.91[EUR][1000 genomes]
rs12706121	0.95[EUR][1000 genomes]
rs12706122	0.93[EUR][1000 genomes]
rs12706123	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13222845	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13224082	0.96[EUR][1000 genomes]
rs13228847	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13239000	0.92[EUR][1000 genomes]
rs2237720	0.97[EUR][1000 genomes]
rs2301649	0.96[EUR][1000 genomes]
rs3173936	0.96[EUR][1000 genomes]
rs3807999	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808	0.96[EUR][1000 genomes]
rs7808129	0.80[EUR][1000 genomes]
rs9791492	0.97[EUR][1000 genomes]
rs9791721	0.96[EUR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116502000-116505000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:116502200-116505000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:116502200-116505200	Active TSS	Psoas Muscle	Psoas
4	chr7:116502200-116505200	Active TSS	GM12878-XiMat	blood
5	chr7:116502400-116505000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:116502400-116505000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:116502400-116505000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:116502400-116505000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:116502400-116505000	Active TSS	HSMMtube	muscle
10	chr7:116502400-116505200	Active TSS	HMEC	breast
11	chr7:116502600-116505000	Active TSS	Aorta	Aorta
12	chr7:116503000-116506000	Active TSS	Right Atrium	heart
13	chr7:116503200-116505000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr7:116503400-116505000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:116503400-116505200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:116503400-116505200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:116503400-116505200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:116503600-116505200	Flanking Active TSS	Dnd41	blood
19	chr7:116503800-116505000	Active TSS	HepG2	liver
20	chr7:116503800-116505600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:116503800-116506000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:116503800-116509800	Weak transcription	Spleen	Spleen
23	chr7:116503800-116510400	Weak transcription	Gastric	stomach
24	chr7:116503800-116554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:116504000-116505000	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr7:116504000-116505000	Flanking Active TSS	K562	blood
27	chr7:116504000-116506000	Enhancers	Primary B cells from peripheral blood	blood
28	chr7:116504000-116506000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr7:116504000-116506600	Weak transcription	Stomach Mucosa	stomach
30	chr7:116504000-116510600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:116504000-116512800	Weak transcription	Placenta	Placenta
32	chr7:116504000-116514000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:116504000-116514800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:116504000-116515000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:116504200-116505000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:116504200-116505000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:116504200-116505000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr7:116504200-116505000	Active TSS	Thymus	Thymus
39	chr7:116504200-116505200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:116504200-116505600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:116504200-116505600	Weak transcription	Lung	lung
42	chr7:116504200-116505800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:116504200-116506000	Enhancers	Primary B cells from cord blood	blood
44	chr7:116504200-116506000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr7:116504200-116510000	Weak transcription	Pancreas	Pancrea
46	chr7:116504200-116516800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:116504200-116516800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:116504200-116516800	Weak transcription	Esophagus	oesophagus
49	chr7:116504400-116505000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr7:116504400-116505000	Enhancers	Liver	Liver

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