Variant report

Variant	rs10199240
Chromosome Location	chr2:20776764-20776765
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20644778..20652349-chr2:20775724..20782509,25	MCF-7	breast:
2	chr2:20775386..20780947-chr2:20790998..20795393,7	K562	blood:
3	chr2:20756784..20758920-chr2:20774602..20776953,2	K562	blood:
4	chr2:20771832..20774645-chr2:20774771..20777739,3	K562	blood:
5	chr2:20772999..20776929-chr2:20778925..20783592,5	MCF-7	breast:
6	chr2:20645631..20648021-chr2:20775459..20777167,2	MCF-7	breast:
7	chr2:20672376..20674639-chr2:20775107..20777593,2	MCF-7	breast:
8	chr2:20768883..20770506-chr2:20776488..20778619,2	MCF-7	breast:
9	chr2:20776319..20778530-chr2:20816686..20818367,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000231948	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10204567	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20764400-20778200	Enhancers	HepG2	liver
2	chr2:20765600-20780800	Enhancers	Adipose Nuclei	Adipose
3	chr2:20765800-20786200	Enhancers	HUVEC	blood vessel
4	chr2:20766800-20780800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:20766800-20781000	Enhancers	Left Ventricle	heart
6	chr2:20767000-20781000	Enhancers	Right Atrium	heart
7	chr2:20767400-20778200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:20767800-20778600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:20767800-20782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:20768600-20777200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:20769200-20777000	Weak transcription	HMEC	breast
12	chr2:20769400-20780000	Enhancers	Fetal Intestine Large	intestine
13	chr2:20769800-20781000	Enhancers	Fetal Muscle Leg	muscle
14	chr2:20771600-20777200	Weak transcription	Psoas Muscle	Psoas
15	chr2:20771600-20777400	Weak transcription	Small Intestine	intestine
16	chr2:20772600-20781000	Enhancers	Placenta	Placenta
17	chr2:20772600-20785800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:20772800-20779400	Weak transcription	Liver	Liver
19	chr2:20772800-20780800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:20773000-20777800	Weak transcription	Pancreas	Pancrea
21	chr2:20773000-20781000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:20773400-20781200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:20773600-20780000	Enhancers	Spleen	Spleen
24	chr2:20773600-20780200	Enhancers	Fetal Heart	heart
25	chr2:20773600-20781000	Enhancers	Lung	lung
26	chr2:20774000-20777000	Weak transcription	NHEK	skin
27	chr2:20774000-20777800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:20774000-20777800	Weak transcription	HSMM	muscle
29	chr2:20774000-20778400	Weak transcription	Fetal Kidney	kidney
30	chr2:20774200-20777400	Weak transcription	Osteobl	bone
31	chr2:20774400-20777200	Weak transcription	Esophagus	oesophagus
32	chr2:20774400-20777400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:20774400-20777600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:20774400-20777600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:20774400-20778400	Weak transcription	HSMMtube	muscle
36	chr2:20774600-20776800	Weak transcription	Colonic Mucosa	Colon
37	chr2:20774600-20777000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:20774600-20777000	Weak transcription	NHLF	lung
39	chr2:20774600-20777200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:20774600-20777200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:20774600-20777200	Weak transcription	NHDF-Ad	bronchial
42	chr2:20774600-20781000	Enhancers	Fetal Muscle Trunk	muscle
43	chr2:20774800-20777600	Weak transcription	Brain Angular Gyrus	brain
44	chr2:20774800-20777600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:20774800-20777800	Weak transcription	Brain Anterior Caudate	brain
46	chr2:20775000-20777200	Weak transcription	NH-A	brain
47	chr2:20775000-20778800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:20775200-20777200	Weak transcription	Brain Substantia Nigra	brain
49	chr2:20775200-20778800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:20775200-20780800	Enhancers	Placenta Amnion	Placenta Amnion

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