Variant report

Variant	rs3807999
Chromosome Location	chr7:116503489-116503490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:116449194..116452032-chr7:116500966..116504304,4	MCF-7	breast:
2	7:115847372-115857098..7:116503335-116504229	Hela-S3	cervix:
3	chr7:116502425..116505177-chr7:116515500..116518644,3	K562	blood:
4	chr7:116500082..116503842-chr7:116515531..116518522,3	MCF-7	breast:
5	chr7:116502823..116504965-chr7:116592665..116594956,3	K562	blood:
6	chr7:116501025..116504036-chr7:116513935..116518644,4	K562	blood:
7	chr7:116501242..116506265-chr7:116510058..116522773,18	MCF-7	breast:
8	chr7:116500946..116504332-chr7:116654661..116656841,4	K562	blood:
9	chr7:116501669..116504720-chr7:116591889..116594956,5	K562	blood:
10	chr7:116502166..116506934-chr7:116591377..116594260,5	MCF-7	breast:
11	chr7:116503087..116504687-chr7:116661264..116663427,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227199	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000235945	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10487354	0.88[CEU][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs10487355	0.88[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs10487356	0.87[CEU][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes]
rs10953829	0.88[CEU][hapmap];0.97[EUR][1000 genomes]
rs10953830	0.88[CEU][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs10953831	0.83[TSI][hapmap]
rs12533164	0.87[CEU][hapmap];0.98[EUR][1000 genomes]
rs12533755	0.87[CEU][hapmap];0.98[EUR][1000 genomes]
rs12665952	0.95[EUR][1000 genomes]
rs12669383	0.90[EUR][1000 genomes]
rs12670056	0.88[CEU][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs12670264	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs12671827	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12671828	0.93[EUR][1000 genomes]
rs12672008	0.88[CEU][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs12673979	0.92[EUR][1000 genomes]
rs12674017	0.96[EUR][1000 genomes]
rs12706108	0.88[CEU][hapmap];0.99[EUR][1000 genomes]
rs12706109	0.99[EUR][1000 genomes]
rs12706110	0.97[EUR][1000 genomes]
rs12706112	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706115	0.93[EUR][1000 genomes]
rs12706120	0.92[EUR][1000 genomes]
rs12706121	0.88[CEU][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs12706122	0.82[CEU][hapmap];0.94[EUR][1000 genomes]
rs12706123	0.81[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.94[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13222845	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13224082	0.97[EUR][1000 genomes]
rs13228847	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13239000	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs2237720	0.87[CEU][hapmap];0.99[EUR][1000 genomes]
rs2283053	1.00[ASW][hapmap]
rs2299441	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2301649	0.88[CEU][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs2402120	0.80[CHD][hapmap]
rs3173936	0.88[CEU][hapmap];0.97[EUR][1000 genomes]
rs4808	0.88[CEU][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes]
rs7804651	0.87[TSI][hapmap]
rs7808129	0.81[EUR][1000 genomes]
rs9791492	0.88[CEU][hapmap];1.00[YRI][hapmap];0.99[EUR][1000 genomes]
rs9791721	0.88[CEU][hapmap];0.98[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116502000-116503600	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr7:116502000-116503800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:116502000-116504000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr7:116502000-116504000	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr7:116502000-116504800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr7:116502000-116504800	Active TSS	Stomach Smooth Muscle	stomach
7	chr7:116502000-116505000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:116502200-116503600	Active TSS	Fetal Lung	lung
9	chr7:116502200-116503800	Active TSS	Small Intestine	intestine
10	chr7:116502200-116504200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr7:116502200-116504200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:116502200-116504200	Active TSS	Lung	lung
13	chr7:116502200-116504400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:116502200-116504400	Active TSS	Fetal Brain Female	brain
15	chr7:116502200-116504400	Active TSS	Fetal Muscle Trunk	muscle
16	chr7:116502200-116504400	Active TSS	Ovary	ovary
17	chr7:116502200-116504600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:116502200-116504600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:116502200-116504600	Active TSS	Fetal Kidney	kidney
20	chr7:116502200-116504600	Active TSS	HSMM	muscle
21	chr7:116502200-116505000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:116502200-116505200	Active TSS	Psoas Muscle	Psoas
23	chr7:116502200-116505200	Active TSS	GM12878-XiMat	blood
24	chr7:116502400-116503600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:116502400-116503600	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr7:116502400-116503600	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr7:116502400-116503600	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr7:116502400-116503600	Active TSS	Liver	Liver
29	chr7:116502400-116503600	Active TSS	Brain Anterior Caudate	brain
30	chr7:116502400-116503600	Active TSS	Brain Hippocampus Middle	brain
31	chr7:116502400-116503600	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr7:116502400-116503600	Active TSS	Dnd41	blood
33	chr7:116502400-116503600	Active TSS	NHEK	skin
34	chr7:116502400-116503800	Active TSS	Brain Cingulate Gyrus	brain
35	chr7:116502400-116503800	Active TSS	Brain Substantia Nigra	brain
36	chr7:116502400-116503800	Active TSS	Osteobl	bone
37	chr7:116502400-116504000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr7:116502400-116504000	Active TSS	Fetal Thymus	thymus
39	chr7:116502400-116504000	Active TSS	K562	blood
40	chr7:116502400-116504000	Active TSS	NH-A	brain
41	chr7:116502400-116504200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr7:116502400-116504200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr7:116502400-116504200	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr7:116502400-116504200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:116502400-116504200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:116502400-116504200	Active TSS	Colon Smooth Muscle	Colon
47	chr7:116502400-116504200	Active TSS	Duodenum Mucosa	Duodenum
48	chr7:116502400-116504200	Active TSS	Hela-S3	cervix
49	chr7:116502400-116504400	Active TSS	H1 Cell Line	embryonic stem cell
50	chr7:116502400-116504400	Active TSS	Brain Angular Gyrus	brain

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