Variant report

Variant	rs72799421
Chromosome Location	chr2:39194050-39194051
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39187339..39190215-chr2:39191459..39195210,3	K562	blood:
2	chr2:39187339..39190215-chr2:39192454..39195210,2	K562	blood:
3	chr2:39193184..39195918-chr2:39211170..39213128,2	K562	blood:
4	chr2:39192683..39195267-chr2:39196108..39199516,3	K562	blood:
5	chr2:38978123..38979841-chr2:39192581..39194714,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115875	Chromatin interaction
ENSG00000214694	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000269210	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11124658	1.00[ASN][1000 genomes]
rs12478214	1.00[ASN][1000 genomes]
rs72799410	1.00[ASN][1000 genomes]
rs72799415	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799416	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799481	1.00[AMR][1000 genomes];1.00[ASN][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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39187800-39196200	Weak transcription	Aorta	Aorta
2	chr2:39188000-39194200	Weak transcription	Fetal Heart	heart
3	chr2:39188000-39195200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:39188000-39199800	Weak transcription	Right Ventricle	heart
5	chr2:39188000-39202000	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:39188000-39212400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:39188000-39212600	Weak transcription	Gastric	stomach
8	chr2:39188000-39213000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:39188000-39222400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:39188200-39195200	Weak transcription	Ovary	ovary
11	chr2:39188200-39201400	Weak transcription	Brain Angular Gyrus	brain
12	chr2:39188200-39201400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:39188200-39205000	Weak transcription	Fetal Brain Male	brain
14	chr2:39188200-39210800	Weak transcription	HMEC	breast
15	chr2:39188200-39211800	Weak transcription	Fetal Lung	lung
16	chr2:39188400-39195200	Weak transcription	Brain Germinal Matrix	brain
17	chr2:39188400-39195800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:39188400-39201400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:39188400-39201600	Weak transcription	Brain Anterior Caudate	brain
20	chr2:39188400-39201600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:39188400-39212000	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:39188400-39212400	Weak transcription	Fetal Brain Female	brain
23	chr2:39189200-39212000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:39192000-39207400	Weak transcription	Fetal Intestine Small	intestine
25	chr2:39192600-39195400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:39193000-39201600	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:39193200-39194600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:39193400-39194200	Enhancers	Fetal Stomach	stomach
29	chr2:39193400-39194400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:39193400-39194600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:39193600-39194400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:39193600-39194600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:39193600-39194600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:39193800-39194200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:39193800-39194400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:39193800-39194600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:39193800-39194600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:39194000-39194400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:39194000-39194600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:39194000-39194600	Enhancers	Spleen	Spleen
41	chr2:39194000-39202000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:39194000-39213000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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