Variant report

Variant	rs4832219
Chromosome Location	chr2:86128563-86128564
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86113728..86117711-chr2:86127161..86129318,3	K562	blood:
2	chr2:86127578..86130184-chr2:86130997..86134221,3	K562	blood:
3	chr2:86127269..86128951-chr2:86134327..86136016,2	K562	blood:
4	chr2:86115517..86117569-chr2:86127124..86130005,2	MCF-7	breast:
5	chr2:86123033..86125341-chr2:86126269..86129259,2	K562	blood:

Variant related genes	Relation type
ENSG00000115525	Chromatin interaction
ENSG00000232504	Chromatin interaction
ENSG00000272564	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12478916	0.84[CEU][hapmap]
rs12613609	0.88[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12714154	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12994053	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13024999	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13025142	0.88[ASW][hapmap];0.88[CEU][hapmap];0.90[GIH][hapmap];0.82[LWK][hapmap];0.87[YRI][hapmap]
rs13028295	0.80[JPT][hapmap]
rs13422640	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs1401383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1401385	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1533605	0.88[CEU][hapmap];0.92[GIH][hapmap];0.80[JPT][hapmap];0.87[MEX][hapmap]
rs2010859	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2083170	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2176627	0.88[CEU][hapmap]
rs2366947	0.88[CEU][hapmap];0.92[GIH][hapmap];0.91[MEX][hapmap]
rs2366950	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2679722	0.84[TSI][hapmap]
rs28364795	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4313976	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4331504	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4553826	0.88[CEU][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap]
rs4832015	0.88[CEU][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap]
rs4832213	0.88[CEU][hapmap]
rs4832215	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4832220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4832221	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6547637	0.88[CEU][hapmap]
rs6707472	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6721125	0.88[CEU][hapmap];0.92[GIH][hapmap];0.91[MEX][hapmap]
rs6726662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6734488	0.88[CEU][hapmap]
rs6753350	0.88[CEU][hapmap]
rs7565996	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs893445	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4832219	KCMF1	cis	cerebellum	SCAN
rs4832219	ST3GAL5	cis	cerebellum	SCAN
rs4832219	ST3GAL5	cis	multi-tissue	Pritchard
rs4832219	PTCD3	cis	cerebellum	SCAN
rs4832219	IMMT	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86118600-86131000	Weak transcription	Thymus	Thymus
2	chr2:86119800-86132200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:86120200-86134200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:86120800-86131400	Weak transcription	Pancreas	Pancrea
5	chr2:86121400-86128800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:86121400-86132000	Weak transcription	Placenta	Placenta
7	chr2:86121600-86129000	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:86121600-86129400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:86121600-86131800	Weak transcription	Adipose Nuclei	Adipose
10	chr2:86121800-86128800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:86122000-86134400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:86123200-86128800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:86123200-86132400	Weak transcription	A549	lung
14	chr2:86123200-86132600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:86124400-86129000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:86124400-86134000	Weak transcription	Lung	lung
17	chr2:86126000-86128600	Enhancers	Primary T cells from cord blood	blood
18	chr2:86126000-86128800	Enhancers	Brain Hippocampus Middle	brain
19	chr2:86126000-86129000	Enhancers	Brain Substantia Nigra	brain
20	chr2:86126400-86129000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:86126800-86128600	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:86126800-86129400	Enhancers	Brain Angular Gyrus	brain
23	chr2:86127200-86132000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:86127400-86128800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:86127400-86132000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:86127600-86130800	Weak transcription	K562	blood
27	chr2:86128000-86130000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:86128000-86132200	Weak transcription	Spleen	Spleen
29	chr2:86128200-86128600	Weak transcription	Brain Anterior Caudate	brain
30	chr2:86128200-86128800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:86128400-86131400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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