Variant report

Variant	rs10948126
Chromosome Location	chr6:44109356-44109357
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44101660..44104148-chr6:44106994..44109571,3	MCF-7	breast:
2	chr6:44103703..44105996-chr6:44106065..44109436,3	MCF-7	breast:
3	chr6:44107297..44110338-chr6:44222390..44225778,3	K562	blood:
4	chr6:44107494..44110338-chr6:44222390..44224695,3	K562	blood:

Variant related genes	Relation type
ENSG00000137216	Chromatin interaction
ENSG00000157593	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10428726	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10456527	0.87[CEU][hapmap]
rs10755724	0.80[EUR][1000 genomes]
rs10807295	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948122	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs10948123	0.96[ASN][1000 genomes]
rs10948125	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966587	0.96[ASN][1000 genomes]
rs11967633	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968386	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12525049	0.89[ASN][1000 genomes]
rs12526662	0.96[ASN][1000 genomes]
rs12664793	0.96[ASN][1000 genomes]
rs2096200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3188	1.00[JPT][hapmap]
rs35738079	0.93[ASN][1000 genomes]
rs41282654	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4711765	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4714744	0.96[ASN][1000 genomes]
rs4714749	0.96[ASN][1000 genomes]
rs4714753	0.83[AFR][1000 genomes]
rs55862642	0.96[ASN][1000 genomes]
rs59028814	0.96[ASN][1000 genomes]
rs60245793	0.96[ASN][1000 genomes]
rs60691447	0.96[ASN][1000 genomes]
rs6912142	0.93[ASN][1000 genomes]
rs700006	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs713050	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs73733834	0.93[ASN][1000 genomes]
rs7738970	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756198	0.83[AFR][1000 genomes]
rs7771710	0.96[ASN][1000 genomes]
rs9349273	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10948126	CIB1	trans	lymphoblastoid	seeQTL
rs10948126	GUCA1B	cis	parietal	SCAN
rs10948126	GPR115	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44096600-44119400	Weak transcription	Right Atrium	heart
2	chr6:44096800-44119400	Weak transcription	HUVEC	blood vessel
3	chr6:44098000-44114800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:44098000-44119400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:44098000-44119400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr6:44100400-44119000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:44101200-44119400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:44101400-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:44101600-44113600	Weak transcription	Hela-S3	cervix
10	chr6:44101600-44118400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:44101800-44112400	Strong transcription	Fetal Brain Female	brain
12	chr6:44101800-44112600	Strong transcription	Brain Germinal Matrix	brain
13	chr6:44101800-44119200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:44101800-44124000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:44102000-44109600	Strong transcription	HepG2	liver
16	chr6:44102000-44113400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:44102000-44115200	Weak transcription	Small Intestine	intestine
18	chr6:44102000-44117600	Weak transcription	Fetal Heart	heart
19	chr6:44102000-44118600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:44102000-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:44102200-44109600	Strong transcription	Adipose Nuclei	Adipose
22	chr6:44102200-44112200	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:44102200-44112200	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:44102200-44112400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:44102200-44112400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr6:44102200-44112400	Strong transcription	NHEK	skin
27	chr6:44102200-44117800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:44102200-44118000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:44102200-44118400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:44102200-44119800	Strong transcription	Fetal Intestine Small	intestine
31	chr6:44102400-44109600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:44102400-44109600	Strong transcription	Liver	Liver
33	chr6:44102400-44110800	Strong transcription	Esophagus	oesophagus
34	chr6:44102400-44112000	Strong transcription	Lung	lung
35	chr6:44102400-44112400	Strong transcription	Placenta	Placenta
36	chr6:44102400-44112600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:44102400-44113400	Weak transcription	Fetal Brain Male	brain
38	chr6:44102400-44118000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:44102400-44118000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr6:44102400-44118200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr6:44102400-44118200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr6:44102400-44119400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:44102600-44109800	Strong transcription	HMEC	breast
44	chr6:44102600-44119000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:44102800-44112000	Strong transcription	Brain Cingulate Gyrus	brain
46	chr6:44102800-44112200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:44103000-44118600	Strong transcription	Fetal Intestine Large	intestine
48	chr6:44103600-44109800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:44103600-44119200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:44103600-44119400	Strong transcription	Fetal Muscle Trunk	muscle

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