Variant report

Variant	rs871820
Chromosome Location	chr2:9912829-9912830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9910788..9914069-chr2:9915018..9918206,3	K562	blood:
2	chr2:9911818..9914700-chr2:9914893..9917161,2	K562	blood:
3	chr2:9910905..9912855-chr2:10187356..10189319,2	K562	blood:
4	chr2:9912711..9914278-chr2:9916005..9917523,2	MCF-7	breast:
5	chr2:9908744..9910867-chr2:9911219..9913679,2	K562	blood:
6	chr2:9910757..9913567-chr2:10174591..10176436,2	K562	blood:
7	chr2:9910558..9913108-chr2:10185637..10189105,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243491	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11674369	0.88[CHB][hapmap];0.91[CHD][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv873618	chr2:9870631-9919759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv873620	chr2:9906145-9951970	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs871820	C2orf46	cis	parietal	SCAN
rs871820	GREB1	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9905200-9913000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:9907600-9913600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:9908000-9915200	Enhancers	Fetal Muscle Leg	muscle
4	chr2:9908200-9913600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:9909200-9919200	Weak transcription	Thymus	Thymus
6	chr2:9909600-9915000	Enhancers	Fetal Lung	lung
7	chr2:9909800-9914400	Enhancers	HSMMtube	muscle
8	chr2:9909800-9914800	Enhancers	Placenta	Placenta
9	chr2:9910600-9919000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:9910800-9915000	Enhancers	Left Ventricle	heart
11	chr2:9911000-9914000	Weak transcription	Fetal Kidney	kidney
12	chr2:9911000-9915000	Weak transcription	Lung	lung
13	chr2:9911000-9918200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:9911000-9918400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:9911200-9913000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:9911200-9913000	Weak transcription	K562	blood
17	chr2:9911200-9913400	Weak transcription	Spleen	Spleen
18	chr2:9911200-9913600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:9911200-9914800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:9911200-9914800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:9911200-9918200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:9911400-9919800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:9911600-9913200	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:9911800-9913200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:9911800-9913400	Weak transcription	Fetal Intestine Small	intestine
26	chr2:9911800-9922400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:9912000-9913200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:9912000-9913600	Weak transcription	Fetal Intestine Large	intestine
29	chr2:9912000-9918000	Weak transcription	Fetal Thymus	thymus
30	chr2:9912200-9913400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:9912200-9914400	Weak transcription	Stomach Mucosa	stomach
32	chr2:9912200-9917200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:9912400-9913200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr2:9912400-9913400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:9912400-9913400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:9912400-9913400	Weak transcription	Adipose Nuclei	Adipose
37	chr2:9912400-9913400	Weak transcription	HSMM	muscle
38	chr2:9912400-9913400	Weak transcription	NHLF	lung
39	chr2:9912400-9913600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:9912400-9913600	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:9912400-9914000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:9912400-9914800	Enhancers	Duodenum Mucosa	Duodenum
43	chr2:9912400-9918200	Weak transcription	Esophagus	oesophagus
44	chr2:9912400-9918200	Weak transcription	Gastric	stomach
45	chr2:9912400-9921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:9912400-9923000	Weak transcription	Right Atrium	heart
47	chr2:9912600-9913000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:9912600-9913400	Weak transcription	Right Ventricle	heart
49	chr2:9912600-9913800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:9912600-9914000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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