Variant report

Variant	rs4951571
Chromosome Location	chr1:212298437-212298438
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10863941	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863942	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11809969	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12042024	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12043586	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13374442	0.81[ASN][1000 genomes]
rs1826156	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2884459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245745	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951568	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4951572	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6540721	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6699232	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7523723	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4951571	ICAM2	trans	brain	seeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212274200-212301600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212274400-212308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:212280000-212299600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:212281200-212308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:212283800-212300400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:212284400-212300400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:212285000-212303200	Weak transcription	Fetal Stomach	stomach
8	chr1:212285400-212299600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:212285600-212311200	Weak transcription	Hela-S3	cervix
10	chr1:212287400-212320600	Weak transcription	A549	lung
11	chr1:212292600-212314600	Weak transcription	Thymus	Thymus
12	chr1:212293000-212300400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:212293200-212299600	Weak transcription	Spleen	Spleen
14	chr1:212293200-212313200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:212293400-212298600	Weak transcription	Fetal Heart	heart
16	chr1:212295400-212303800	Weak transcription	K562	blood
17	chr1:212297800-212299000	Enhancers	Stomach Mucosa	stomach
18	chr1:212297800-212299400	Enhancers	Primary B cells from cord blood	blood
19	chr1:212297800-212299800	Enhancers	Duodenum Mucosa	Duodenum
20	chr1:212298000-212302400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr1:212298200-212298600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:212298200-212298600	Enhancers	Esophagus	oesophagus
23	chr1:212298200-212298600	Enhancers	Fetal Intestine Small	intestine
24	chr1:212298200-212298600	Enhancers	Gastric	stomach
25	chr1:212298200-212298600	Enhancers	Pancreas	Pancrea
26	chr1:212298200-212298800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr1:212298200-212298800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr1:212298200-212298800	Enhancers	Liver	Liver
29	chr1:212298200-212299000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:212298200-212299000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:212298200-212299000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:212298200-212299200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:212298200-212299200	Enhancers	Primary T cells from cord blood	blood
34	chr1:212298200-212299200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr1:212298200-212299200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:212298200-212299200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:212298200-212299200	Enhancers	Fetal Thymus	thymus
38	chr1:212298200-212299200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr1:212298200-212299200	Enhancers	NHEK	skin
40	chr1:212298200-212299400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr1:212298200-212300000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr1:212298200-212307200	Strong transcription	Dnd41	blood
43	chr1:212298400-212298600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr1:212298400-212298600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:212298400-212298600	Enhancers	Fetal Intestine Large	intestine
46	chr1:212298400-212298800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:212298400-212298800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:212298400-212298800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:212298400-212298800	Enhancers	Fetal Muscle Trunk	muscle
50	chr1:212298400-212298800	Enhancers	Left Ventricle	heart

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