Variant report

Variant	rs16866637
Chromosome Location	chr2:179972687-179972688
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	chr2:179966762..179969783-chr2:179969877..179973075,3	K562	blood:
2	chr2:179967469..179969783-chr2:179970648..179973075,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs340327	1.00[AMR][1000 genomes]
rs35075647	1.00[AMR][1000 genomes]
rs6725207	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7584067	1.00[YRI][hapmap]

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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS 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	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16866637	ABP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179961600-179972800	Weak transcription	Spleen	Spleen
2	chr2:179961600-179974000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:179962000-179972800	Weak transcription	Fetal Thymus	thymus
4	chr2:179966200-179973000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:179966400-179975600	Weak transcription	Aorta	Aorta
6	chr2:179967200-179976800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:179967800-179980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:179967800-179982400	Weak transcription	Fetal Brain Male	brain
9	chr2:179967800-180004400	Weak transcription	Esophagus	oesophagus
10	chr2:179969200-179972800	Enhancers	Colon Smooth Muscle	Colon
11	chr2:179969200-179973000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:179969400-179980000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:179969600-179973000	Enhancers	HMEC	breast
14	chr2:179970000-179972800	Weak transcription	Placenta	Placenta
15	chr2:179970000-180004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:179970200-179991000	Weak transcription	Psoas Muscle	Psoas
17	chr2:179970400-179972800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:179970400-179977000	Weak transcription	Lung	lung
19	chr2:179970600-179973800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:179970800-179973000	Enhancers	HSMMtube	muscle
21	chr2:179970800-179973200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:179970800-179973200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr2:179970800-179973200	Enhancers	Fetal Intestine Small	intestine
24	chr2:179970800-179973200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr2:179970800-179973400	Enhancers	HUVEC	blood vessel
26	chr2:179970800-179985800	Strong transcription	Primary B cells from cord blood	blood
27	chr2:179970800-179987000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:179971000-179973000	Enhancers	NH-A	brain
29	chr2:179971000-179973200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:179971000-179973200	Enhancers	Stomach Mucosa	stomach
31	chr2:179971000-179974000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr2:179971200-179972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:179971200-179972800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:179971200-179972800	Enhancers	Fetal Intestine Large	intestine
35	chr2:179971200-179973000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:179971200-179973000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr2:179971200-179973000	Weak transcription	Pancreas	Pancrea
38	chr2:179971200-179973000	Enhancers	GM12878-XiMat	blood
39	chr2:179971200-179973200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr2:179971200-179973200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:179971200-179973200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:179971200-179973200	Enhancers	Hela-S3	cervix
43	chr2:179971200-179973400	Genic enhancers	Dnd41	blood
44	chr2:179971200-179973400	Genic enhancers	HepG2	liver
45	chr2:179971200-179977600	Strong transcription	Fetal Lung	lung
46	chr2:179971200-179977800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:179971400-179972800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:179971400-179972800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:179971400-179973000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr2:179971400-179973400	Enhancers	NHLF	lung

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