Variant report

Variant	rs2191847
Chromosome Location	chr2:37811749-37811750
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37810267..37812004-chr2:37812621..37814787,2	MCF-7	breast:
2	chr2:37810708..37813206-chr2:37814020..37815979,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10184610	0.90[ASN][1000 genomes]
rs10490284	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17021064	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2191845	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2215605	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62134989	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6719698	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6761587	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	esv2762494	chr2:37802996-37813373	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2191847	CDC42EP3	cis	parietal	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37799200-37812400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:37802000-37812400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:37808800-37818000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:37809400-37814600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr2:37809400-37814600	Enhancers	Fetal Thymus	thymus
6	chr2:37809400-37817600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:37809600-37811800	Enhancers	K562	blood
8	chr2:37809600-37813200	Enhancers	HMEC	breast
9	chr2:37809600-37816600	Enhancers	Osteobl	bone
10	chr2:37809800-37812400	Enhancers	Fetal Brain Male	brain
11	chr2:37809800-37818400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:37810000-37812200	Enhancers	Colon Smooth Muscle	Colon
13	chr2:37810000-37812600	Enhancers	NHEK	skin
14	chr2:37810000-37817400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:37810000-37817600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:37810200-37811800	Weak transcription	GM12878-XiMat	blood
17	chr2:37810200-37811800	Flanking Active TSS	HSMM	muscle
18	chr2:37810200-37812400	Enhancers	Hela-S3	cervix
19	chr2:37810200-37814400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:37810200-37814600	Enhancers	NHLF	lung
21	chr2:37810200-37815800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:37810200-37816200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:37810200-37817800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:37810400-37812200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:37810400-37812400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:37810400-37812400	Weak transcription	Placenta	Placenta
27	chr2:37810400-37812400	Weak transcription	Fetal Stomach	stomach
28	chr2:37810400-37812600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:37810400-37812600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr2:37810400-37812600	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:37810400-37812600	Weak transcription	Ovary	ovary
32	chr2:37810400-37812600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr2:37810400-37812800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:37810400-37814600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:37810400-37815800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr2:37810400-37815800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr2:37810600-37812000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:37810600-37812200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:37810600-37812400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr2:37810600-37812400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:37810600-37812600	Weak transcription	Esophagus	oesophagus
42	chr2:37810600-37814400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr2:37810800-37811800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:37810800-37811800	Flanking Active TSS	A549	lung
45	chr2:37810800-37812200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:37810800-37812200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:37810800-37812400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:37810800-37812400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:37810800-37812600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:37810800-37812600	Weak transcription	Adipose Nuclei	Adipose

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