Variant report

Variant	rs12464180
Chromosome Location	chr2:37204840-37204841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37204760..37206841-chr2:37210799..37212478,2	K562	blood:
2	chr2:37194247..37196675-chr2:37203224..37205629,3	K562	blood:
3	chr2:37190637..37196620-chr2:37200622..37205629,7	K562	blood:

Variant related genes	Relation type
ENSG00000115808	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10048628	1.00[YRI][hapmap]
rs10084315	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014584	1.00[CHD][hapmap]
rs10167453	1.00[CHD][hapmap]
rs10171853	1.00[ASN][1000 genomes]
rs10174832	1.00[ASN][1000 genomes]
rs10177789	1.00[ASN][1000 genomes]
rs10177905	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10179017	1.00[ASN][1000 genomes]
rs10186611	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202693	0.82[AMR][1000 genomes]
rs10211667	0.82[AMR][1000 genomes]
rs12466249	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470942	0.82[AMR][1000 genomes]
rs12474977	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12475211	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618630	1.00[ASN][1000 genomes]
rs13382481	1.00[ASN][1000 genomes]
rs13382546	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385947	1.00[ASN][1000 genomes]
rs13394344	1.00[ASN][1000 genomes]
rs13398178	0.82[AMR][1000 genomes]
rs13398292	1.00[ASN][1000 genomes]
rs13398577	1.00[ASN][1000 genomes]
rs13398883	1.00[ASN][1000 genomes]
rs13399537	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs13411242	1.00[ASN][1000 genomes]
rs13419229	1.00[ASN][1000 genomes]
rs13423835	1.00[ASN][1000 genomes]
rs13424255	0.82[AMR][1000 genomes]
rs13425123	1.00[CEU][hapmap]
rs13425169	1.00[CEU][hapmap]
rs13426400	0.82[AMR][1000 genomes]
rs13426552	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429524	1.00[ASN][1000 genomes]
rs13430716	1.00[CEU][hapmap]
rs17332720	1.00[YRI][hapmap]
rs17404648	1.00[CHD][hapmap]
rs2247010	1.00[CHD][hapmap]
rs2372713	1.00[ASN][1000 genomes]
rs2464700	1.00[ASN][1000 genomes]
rs2540923	1.00[CHD][hapmap]
rs2691111	1.00[CHD][hapmap]
rs28482188	0.81[AFR][1000 genomes]
rs28692629	1.00[ASN][1000 genomes]
rs4648185	1.00[CEU][hapmap]
rs4648233	1.00[CEU][hapmap]
rs4670171	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs4670618	1.00[ASN][1000 genomes]
rs56808546	1.00[ASN][1000 genomes]
rs6716891	1.00[CHD][hapmap]
rs6721362	1.00[ASN][1000 genomes]
rs9309000	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9631047	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37194400-37214200	Weak transcription	Pancreas	Pancrea
2	chr2:37194400-37229000	Weak transcription	Gastric	stomach
3	chr2:37194800-37206200	Weak transcription	Brain Germinal Matrix	brain
4	chr2:37194800-37211600	Weak transcription	HSMM	muscle
5	chr2:37194800-37226400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:37194800-37232400	Weak transcription	NHLF	lung
7	chr2:37195000-37206200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:37195000-37206400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:37195000-37206800	Weak transcription	Primary B cells from cord blood	blood
10	chr2:37195000-37206800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:37195000-37213800	Weak transcription	Right Ventricle	heart
12	chr2:37195000-37224200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:37195200-37205600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:37195200-37206000	Weak transcription	Primary T cells from cord blood	blood
15	chr2:37195200-37206200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:37195200-37206200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:37195200-37206400	Weak transcription	Fetal Brain Female	brain
18	chr2:37195200-37206600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:37195200-37206800	Weak transcription	Adipose Nuclei	Adipose
20	chr2:37195200-37207600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:37195200-37211200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:37195200-37214000	Weak transcription	Brain Anterior Caudate	brain
23	chr2:37195200-37217400	Weak transcription	NHDF-Ad	bronchial
24	chr2:37195200-37225400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:37195400-37206400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:37195400-37206600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:37195400-37207400	Weak transcription	GM12878-XiMat	blood
29	chr2:37195400-37207800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:37195400-37208600	Weak transcription	Osteobl	bone
31	chr2:37195400-37213800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:37195400-37215000	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:37195400-37217600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:37195400-37227400	Weak transcription	A549	lung
35	chr2:37195400-37227600	Weak transcription	HUVEC	blood vessel
36	chr2:37195400-37248600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:37195600-37205800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:37195600-37206600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:37195600-37215200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:37195600-37231400	Weak transcription	Brain Angular Gyrus	brain
41	chr2:37195800-37206000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:37195800-37206400	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:37195800-37207000	Weak transcription	Fetal Lung	lung
44	chr2:37195800-37208800	Weak transcription	Fetal Intestine Large	intestine
45	chr2:37195800-37229000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:37196000-37206800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:37196000-37206800	Weak transcription	Fetal Intestine Small	intestine
48	chr2:37196000-37207800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:37196000-37208200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:37196000-37213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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