Variant report

Variant	rs3217881
Chromosome Location	chr12:4402688-4402689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4402239..4404395-chr12:4405990..4408960,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3217827	0.82[TSI][hapmap]
rs3217874	0.86[EUR][1000 genomes]
rs3217882	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv541361	chr12:4362258-4413849	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1042204	chr12:4395088-4408802	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1054861	chr12:4395342-4406281	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1037515	chr12:4395342-4408673	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1035984	chr12:4395342-4408802	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1035841	chr12:4395736-4408802	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1053259	chr12:4396376-4408802	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv468984	chr12:4399087-4411804	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv557121	chr12:4399087-4411804	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3217881	RAD51AP1	cis	cerebellum	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4385400-4404400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
2	chr12:4386000-4404600	Genic enhancers	Primary T cells fromperipheralblood	blood
3	chr12:4386200-4403000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:4386200-4404200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:4386200-4404800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:4386600-4406800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:4387200-4415200	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr12:4387800-4415200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:4388200-4411200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:4388200-4415200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr12:4388200-4415200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:4389600-4403200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:4390000-4405800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:4393600-4404400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr12:4394000-4410200	Weak transcription	Thymus	Thymus
16	chr12:4394200-4404400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:4394800-4404200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:4395000-4403800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:4397200-4402800	Strong transcription	HSMM	muscle
20	chr12:4397200-4415800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:4397400-4415000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:4397400-4416000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:4397600-4409800	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr12:4397600-4415000	Strong transcription	NHEK	skin
25	chr12:4397600-4415400	Strong transcription	HMEC	breast
26	chr12:4397800-4402800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:4398200-4405200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:4398200-4411600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:4398200-4412800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:4398400-4402800	Genic enhancers	Primary T cells from cord blood	blood
31	chr12:4398800-4411000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr12:4398800-4417400	Strong transcription	GM12878-XiMat	blood
33	chr12:4399000-4411400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:4399000-4416800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:4399000-4417200	Weak transcription	Gastric	stomach
36	chr12:4399400-4403200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr12:4399400-4404600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr12:4399400-4411200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:4399400-4416200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:4399600-4420000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:4399800-4403200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:4399800-4419400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:4400000-4403600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr12:4400000-4405400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:4400000-4410200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:4400000-4413200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:4400000-4415200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr12:4400000-4418800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:4400200-4403000	Weak transcription	Esophagus	oesophagus
50	chr12:4400200-4403200	Weak transcription	Fetal Lung	lung

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