Variant report

Variant	rs61736780
Chromosome Location	chr2:39107750-39107751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39106547..39110069-chr2:39150032..39154401,3	K562	blood:
2	chr2:39102312..39104681-chr2:39105607..39108211,2	K562	blood:
3	chr2:39106402..39108515-chr2:39149048..39151113,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163214	Chromatin interaction
ENSG00000188010	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1010859	0.82[AFR][1000 genomes]
rs11888352	0.91[EUR][1000 genomes]
rs2373467	0.92[EUR][1000 genomes]
rs2373469	0.96[AFR][1000 genomes]
rs2373471	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3099951	0.92[EUR][1000 genomes]
rs3099955	0.81[AFR][1000 genomes]
rs3099958	0.84[AFR][1000 genomes]
rs3100000	0.87[AFR][1000 genomes]
rs3112163	0.88[AFR][1000 genomes]
rs3112166	0.85[AFR][1000 genomes]
rs3112175	0.85[AFR][1000 genomes]
rs35349461	1.00[ASN][1000 genomes]
rs4670900	0.85[AFR][1000 genomes]
rs6736353	0.96[AFR][1000 genomes]
rs72797369	0.88[AFR][1000 genomes]
rs72797376	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72797386	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72797389	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72797392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72797401	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72797402	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv2692	chr2:39065768-39111871	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:39103800-39107800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:39103800-39107800	Weak transcription	Placenta	Placenta
3	chr2:39103800-39113400	Weak transcription	Pancreas	Pancrea
4	chr2:39103800-39113400	Weak transcription	HSMMtube	muscle
5	chr2:39103800-39114000	Weak transcription	Lung	lung
6	chr2:39103800-39120200	Weak transcription	Left Ventricle	heart
7	chr2:39104000-39111200	Weak transcription	HUVEC	blood vessel
8	chr2:39104000-39112600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:39104000-39112600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:39104000-39113200	Weak transcription	Right Ventricle	heart
11	chr2:39104000-39113400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:39104000-39114200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:39104200-39108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:39104200-39108000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:39104200-39108000	Weak transcription	Hela-S3	cervix
16	chr2:39104200-39108200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:39104200-39108600	Weak transcription	Dnd41	blood
18	chr2:39104200-39109000	Weak transcription	Stomach Mucosa	stomach
19	chr2:39104200-39109600	Weak transcription	Adipose Nuclei	Adipose
20	chr2:39104200-39110000	Weak transcription	HMEC	breast
21	chr2:39104200-39110600	Weak transcription	Fetal Stomach	stomach
22	chr2:39104200-39111000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:39104200-39111200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:39104200-39111200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:39104200-39111200	Weak transcription	Osteobl	bone
26	chr2:39104200-39111400	Weak transcription	HSMM	muscle
27	chr2:39104200-39111800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:39104200-39111800	Weak transcription	Fetal Kidney	kidney
29	chr2:39104200-39112000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:39104200-39112000	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:39104200-39112000	Weak transcription	NHDF-Ad	bronchial
32	chr2:39104200-39112200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:39104200-39112400	Weak transcription	Fetal Intestine Small	intestine
34	chr2:39104200-39112600	Weak transcription	Brain Angular Gyrus	brain
35	chr2:39104200-39112800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:39104200-39113400	Weak transcription	Fetal Intestine Large	intestine
37	chr2:39104200-39113400	Weak transcription	Psoas Muscle	Psoas
38	chr2:39104200-39113400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:39104200-39113800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:39104200-39113800	Weak transcription	Fetal Lung	lung
41	chr2:39104200-39114400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:39104200-39114400	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:39104200-39114800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:39104200-39114800	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:39104200-39115800	Weak transcription	Brain Germinal Matrix	brain
46	chr2:39104200-39119400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:39104200-39122200	Weak transcription	Ovary	ovary
48	chr2:39104200-39129000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:39107000-39113600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:39107400-39108400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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