Variant report

Variant	rs2224541
Chromosome Location	chr14:70102206-70102207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70101474..70104244-chr14:70105126..70107458,2	K562	blood:
2	chr14:70101993..70106597-chr14:70107643..70110243,6	MCF-7	breast:
3	chr14:70095351..70098392-chr14:70102040..70105224,3	MCF-7	breast:
4	chr14:70096444..70098437-chr14:70100734..70102530,2	K562	blood:
5	chr14:70070411..70072441-chr14:70102031..70104463,2	MCF-7	breast:
6	chr14:70096444..70099112-chr14:70101030..70103502,2	K562	blood:
7	chr14:70076463..70079289-chr14:70101181..70103707,2	K562	blood:
8	chr14:70101968..70105684-chr14:70161055..70164607,3	K562	blood:
9	chr14:70101474..70104313-chr14:70104673..70108475,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10149246	0.85[GIH][hapmap]
rs1109652	0.81[ASN][1000 genomes]
rs12435686	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12589913	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12590789	0.98[ASN][1000 genomes]
rs1275747	0.85[YRI][hapmap]
rs1275748	0.80[YRI][hapmap]
rs1275749	0.86[YRI][hapmap]
rs1275824	0.81[CHB][hapmap]
rs1275828	0.83[CHB][hapmap]
rs12895185	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2152373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4899308	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902747	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6573897	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573902	0.81[EUR][1000 genomes]
rs7146578	0.89[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap]
rs8008410	0.84[ASN][1000 genomes]
rs875424	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs943275	0.81[EUR][1000 genomes]
rs945311	0.89[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2224541	SLC8A3	cis	parietal	SCAN
rs2224541	ERH	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
2	chr14:70092800-70102400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr14:70093000-70102800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr14:70093000-70103000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr14:70093800-70107400	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:70094800-70105600	Enhancers	Right Ventricle	heart
7	chr14:70094800-70106600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:70095000-70102400	Enhancers	Primary T cells from cord blood	blood
9	chr14:70095000-70102400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr14:70095000-70102800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr14:70095000-70104200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:70095000-70106400	Enhancers	Brain Hippocampus Middle	brain
13	chr14:70095000-70106800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr14:70095200-70103000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr14:70095400-70106600	Enhancers	Psoas Muscle	Psoas
16	chr14:70095400-70107000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr14:70095600-70105800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:70095600-70105800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr14:70095600-70106800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:70095800-70102400	Enhancers	Colon Smooth Muscle	Colon
21	chr14:70095800-70106200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:70095800-70106400	Enhancers	Adipose Nuclei	Adipose
23	chr14:70096600-70102600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:70096600-70103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:70097000-70102600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:70097200-70102400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr14:70097400-70104000	Weak transcription	Fetal Brain Male	brain
28	chr14:70097400-70105800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:70097600-70105600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:70097600-70106400	Enhancers	HMEC	breast
31	chr14:70097800-70105800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:70098000-70104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:70098000-70104200	Enhancers	HepG2	liver
34	chr14:70098200-70105800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:70098400-70105600	Enhancers	HSMMtube	muscle
36	chr14:70098400-70106600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr14:70098600-70102800	Enhancers	Rectal Smooth Muscle	rectum
38	chr14:70098600-70105600	Enhancers	Fetal Lung	lung
39	chr14:70099000-70104000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr14:70099000-70104200	Weak transcription	HSMM	muscle
41	chr14:70099200-70102800	Weak transcription	Esophagus	oesophagus
42	chr14:70099200-70103000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:70099200-70104000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:70099200-70104000	Weak transcription	NHDF-Ad	bronchial
45	chr14:70099200-70105600	Enhancers	Brain Cingulate Gyrus	brain
46	chr14:70099200-70106800	Enhancers	Stomach Mucosa	stomach
47	chr14:70099400-70102400	Enhancers	Stomach Smooth Muscle	stomach
48	chr14:70099400-70104200	Weak transcription	NH-A	brain
49	chr14:70099400-70106600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr14:70099600-70102600	Weak transcription	Osteobl	bone

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