Variant report

Variant	rs73979718
Chromosome Location	chr2:178200101-178200102
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178199441..178200377-chr2:178280659..178281570,5	MCF-7	breast:
2	chr2:178127949..178131431-chr2:178195364..178200597,7	K562	blood:
3	chr2:178078984..178080671-chr2:178199886..178201809,2	K562	blood:
4	chr2:178187416..178191009-chr2:178199776..178203917,4	K562	blood:
5	chr2:178192691..178195297-chr2:178200068..178202919,2	K562	blood:
6	chr2:178199860..178200463-chr2:178283792..178284347,2	MCF-7	breast:
7	chr2:178147905..178150215-chr2:178197711..178200128,3	K562	blood:
8	chr2:178199929..178202239-chr2:178204992..178206709,2	K562	blood:
9	chr2:178199837..178200365-chr2:178208742..178209374,2	MCF-7	breast:
10	chr2:178200058..178202782-chr2:178255287..178258460,3	K562	blood:
11	chr2:178199410..178200741-chr2:178280392..178281734,11	MCF-7	breast:
12	chr2:178125506..178127319-chr2:178199842..178201994,2	K562	blood:
13	chr2:178127949..178130011-chr2:178198809..178201517,2	K562	blood:
14	chr2:178028679..178029954-chr2:178199399..178200370,5	K562	blood:
15	chr2:178199607..178202541-chr2:178258032..178259848,2	K562	blood:
16	chr2:178199438..178200292-chr2:178354145..178354924,2	K562	blood:
17	chr2:178091030..178093302-chr2:178197862..178200495,2	K562	blood:
18	chr2:178199451..178200336-chr2:178280550..178281601,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213963	Chromatin interaction
ENSG00000236501	Chromatin interaction
ENSG00000018510	Chromatin interaction
ENSG00000222043	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000237178	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10175252	0.82[EUR][1000 genomes]
rs10175660	0.82[EUR][1000 genomes]
rs10187221	1.00[EUR][1000 genomes]
rs10187323	1.00[EUR][1000 genomes]
rs10198518	0.82[EUR][1000 genomes]
rs10207495	0.82[EUR][1000 genomes]
rs10930783	0.82[EUR][1000 genomes]
rs13392350	0.82[EUR][1000 genomes]
rs13394038	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13426818	0.82[EUR][1000 genomes]
rs13429924	1.00[EUR][1000 genomes]
rs1453374	0.82[EUR][1000 genomes]
rs1453375	0.82[EUR][1000 genomes]
rs16865163	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55848656	0.82[EUR][1000 genomes]
rs56174568	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56181372	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56806189	0.82[EUR][1000 genomes]
rs58583364	0.82[EUR][1000 genomes]
rs59108338	0.90[EUR][1000 genomes]
rs59549243	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6720934	0.82[EUR][1000 genomes]
rs6720970	0.82[EUR][1000 genomes]
rs6724177	0.82[EUR][1000 genomes]
rs6735504	0.82[EUR][1000 genomes]
rs6744247	0.82[EUR][1000 genomes]
rs6746113	0.82[EUR][1000 genomes]
rs73035188	0.82[EUR][1000 genomes]
rs73035190	0.82[EUR][1000 genomes]
rs73035193	0.82[EUR][1000 genomes]
rs73039071	0.82[EUR][1000 genomes]
rs73039075	0.82[EUR][1000 genomes]
rs73979713	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979720	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73979722	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7566319	0.82[EUR][1000 genomes]
rs7581364	0.85[AMR][1000 genomes];1.00[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	nsv3051	chr2:178193436-178239394	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178175200-178203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:178187800-178210800	Weak transcription	Left Ventricle	heart
4	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:178190600-178202600	Weak transcription	NHDF-Ad	bronchial
6	chr2:178191000-178200400	Weak transcription	Small Intestine	intestine
7	chr2:178191600-178202800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:178192000-178201800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:178193200-178202800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:178194000-178202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:178195200-178213600	Weak transcription	Gastric	stomach
12	chr2:178195400-178211400	Weak transcription	Fetal Intestine Small	intestine
13	chr2:178197000-178202600	Weak transcription	Osteobl	bone
14	chr2:178197000-178203800	Weak transcription	Brain Anterior Caudate	brain
15	chr2:178197000-178207600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:178197200-178200600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:178197200-178200600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:178197200-178201200	Weak transcription	Fetal Thymus	thymus
19	chr2:178197200-178202600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:178197200-178202600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:178197200-178202600	Weak transcription	NHEK	skin
22	chr2:178197200-178202800	Weak transcription	Adipose Nuclei	Adipose
23	chr2:178197200-178202800	Weak transcription	GM12878-XiMat	blood
24	chr2:178197200-178203200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:178197200-178204800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:178197200-178211800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:178197200-178211800	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:178197200-178212000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:178197200-178213400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:178197200-178215000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:178197200-178216800	Weak transcription	Primary T cells from cord blood	blood
32	chr2:178197200-178217600	Weak transcription	Primary B cells from cord blood	blood
33	chr2:178197600-178200600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:178197600-178202000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:178197600-178202200	Weak transcription	Stomach Mucosa	stomach
36	chr2:178197600-178202600	Weak transcription	NH-A	brain
37	chr2:178197600-178202800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:178197600-178211200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:178197600-178217200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:178197800-178202600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:178197800-178202600	Weak transcription	HMEC	breast
42	chr2:178197800-178202600	Weak transcription	NHLF	lung
43	chr2:178197800-178202800	Weak transcription	HSMMtube	muscle
44	chr2:178197800-178204800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:178197800-178211400	Weak transcription	Fetal Heart	heart
46	chr2:178197800-178214000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:178197800-178215400	Weak transcription	Dnd41	blood
48	chr2:178198000-178200400	Weak transcription	HSMM	muscle
49	chr2:178198000-178202200	Weak transcription	Hela-S3	cervix
50	chr2:178198000-178202600	Weak transcription	A549	lung

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