Variant report

Variant	rs72968499
Chromosome Location	chr3:119138698-119138699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119137043..119139802-chr3:119141104..119143797,2	K562	blood:
2	chr3:119137603..119139843-chr3:119394787..119396303,2	MCF-7	breast:
3	chr3:119137060..119139008-chr3:119172885..119175851,2	K562	blood:
4	chr3:119138626..119139712-chr3:119399725..119401267,5	MCF-7	breast:
5	chr3:119130788..119134912-chr3:119135156..119139620,7	K562	blood:

Variant related genes	Relation type
ENSG00000138495	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs3968056	1.00[AMR][1000 genomes]
rs56659708	1.00[AMR][1000 genomes]
rs61324063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61744178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61744411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61747387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6766961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6772192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6781905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6782742	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72655924	1.00[AMR][1000 genomes]
rs72655931	1.00[AMR][1000 genomes]
rs72956724	1.00[AMR][1000 genomes]
rs72966441	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72966442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
2	chr3:119085200-119139000	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:119110200-119140800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:119112000-119147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:119112200-119138800	Weak transcription	Colonic Mucosa	Colon
6	chr3:119113200-119140400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:119119000-119138800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:119121200-119150000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:119130200-119139200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:119130800-119143600	Weak transcription	GM12878-XiMat	blood
11	chr3:119133600-119140400	Weak transcription	NHLF	lung
12	chr3:119133800-119147400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:119134200-119148800	Weak transcription	Pancreas	Pancrea
14	chr3:119134400-119138800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:119134600-119147600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:119134800-119139400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:119134800-119147400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:119135000-119139000	Weak transcription	Fetal Intestine Small	intestine
19	chr3:119135000-119139200	Weak transcription	Right Atrium	heart
20	chr3:119135000-119140800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:119135000-119147400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr3:119135000-119147600	Weak transcription	Fetal Thymus	thymus
23	chr3:119135000-119147800	Weak transcription	Placenta	Placenta
24	chr3:119135000-119148000	Weak transcription	Aorta	Aorta
25	chr3:119135200-119139200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:119135200-119139600	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:119135200-119139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:119135200-119140800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:119135200-119145000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:119135200-119149800	Weak transcription	Gastric	stomach
31	chr3:119135400-119139000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:119135400-119139000	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:119135400-119145600	Weak transcription	HUVEC	blood vessel
34	chr3:119135400-119147800	Weak transcription	Ovary	ovary
35	chr3:119135400-119148000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:119135400-119150000	Weak transcription	Spleen	Spleen
37	chr3:119135600-119139200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr3:119136800-119139000	Weak transcription	Right Ventricle	heart
39	chr3:119136800-119145600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:119137000-119139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:119137000-119142000	Weak transcription	NH-A	brain
42	chr3:119137200-119141800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:119137400-119139400	Weak transcription	Primary T cells from cord blood	blood
44	chr3:119137400-119142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:119137400-119145400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:119137400-119145400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:119137400-119147800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr3:119137600-119139200	Enhancers	K562	blood
49	chr3:119137600-119139600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr3:119137800-119146800	Weak transcription	Osteobl	bone

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