Variant report

Variant	rs73979724
Chromosome Location	chr2:178204242-178204243
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr2:178202235-178205385	K562	blood:	n/a	chr2:178205066-178205075

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178120556..178122702-chr2:178203123..178204984,2	K562	blood:
2	chr2:178202658..178205499-chr2:178207773..178209542,2	K562	blood:
3	chr2:178203312..178206215-chr2:178282887..178284406,2	K562	blood:
4	chr2:178126296..178129647-chr2:178201279..178205909,5	K562	blood:
5	chr2:178202563..178204243-chr2:178260554..178263397,2	K562	blood:
6	chr2:178076626..178079513-chr2:178203978..178206632,2	MCF-7	breast:
7	chr2:178204210..178206067-chr2:178209111..178211927,2	K562	blood:
8	chr2:178203807..178208408-chr2:178210380..178212543,4	K562	blood:
9	chr2:178117173..178120144-chr2:178201534..178205141,3	K562	blood:
10	chr2:178201877..178204648-chr2:178333648..178335869,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237178	TF binding region
ENSG00000116044	Chromatin interaction
ENSG00000238295	Chromatin interaction
ENSG00000265396	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000222043	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000170144	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]
rs73979718	1.00[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]
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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:178187800-178210800	Weak transcription	Left Ventricle	heart
3	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:178195200-178213600	Weak transcription	Gastric	stomach
5	chr2:178195400-178211400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:178197000-178207600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:178197200-178204800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:178197200-178211800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:178197200-178211800	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:178197200-178212000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:178197200-178213400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:178197200-178215000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:178197200-178216800	Weak transcription	Primary T cells from cord blood	blood
14	chr2:178197200-178217600	Weak transcription	Primary B cells from cord blood	blood
15	chr2:178197600-178211200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:178197600-178217200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:178197800-178204800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:178197800-178211400	Weak transcription	Fetal Heart	heart
19	chr2:178197800-178214000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:178197800-178215400	Weak transcription	Dnd41	blood
21	chr2:178198000-178205600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:178198000-178206200	Weak transcription	Fetal Kidney	kidney
23	chr2:178198000-178210600	Weak transcription	HepG2	liver
24	chr2:178198000-178213000	Weak transcription	Ovary	ovary
25	chr2:178199000-178214400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:178199600-178213600	Weak transcription	Brain Angular Gyrus	brain
27	chr2:178200800-178213600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:178201000-178211000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:178201000-178211200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:178202200-178217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:178203200-178216400	Weak transcription	HSMMtube	muscle
32	chr2:178203200-178217800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:178203400-178210400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:178203400-178215000	Weak transcription	Adipose Nuclei	Adipose
35	chr2:178203400-178216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:178203400-178216000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:178203400-178217000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:178203400-178244400	Weak transcription	HSMM	muscle
39	chr2:178203600-178204800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:178203600-178204800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:178203600-178213000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:178203800-178214000	Weak transcription	K562	blood
43	chr2:178203800-178221600	Weak transcription	A549	lung

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