Variant report

Variant	rs11168
Chromosome Location	chr6:166755979-166755980
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:56708892..56709643-chr6:166755874..166756473,2	NB4	blood:
2	chr6:166751804..166757558-chr6:166793969..166799153,5	K562	blood:
3	chr6:166755930..166757619-chr6:166781019..166784045,3	MCF-7	breast:
4	chr6:166754173..166757774-chr6:166795355..166798060,3	MCF-7	breast:
5	chr6:166753320..166757958-chr6:166794622..166799153,8	K562	blood:
6	chr1:16161823..16162608-chr6:166755664..166756528,2	Hela-S3	cervix:
7	chr6:166719852..166722547-chr6:166755922..166758056,2	K562	blood:

Variant related genes	Relation type
ENSG00000261420	Chromatin interaction
ENSG00000176381	Chromatin interaction
ENSG00000060762	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000179743	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10806847	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2343590	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4470829	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4598048	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4709112	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6909951	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6918901	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6927168	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7757549	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9355572	0.95[EUR][1000 genomes]
rs9356476	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9356478	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356479	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9366005	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9366006	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9366007	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9459654	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11168	HNRNPA1P49	cis	lung	GTEx
rs11168	SFT2D1	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166754600-166756600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:166754600-166756600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:166754600-166756800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:166754600-166756800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:166754600-166756800	Active TSS	GM12878-XiMat	blood
6	chr6:166754800-166756200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:166754800-166756400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:166754800-166756600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:166754800-166756600	Active TSS	Hela-S3	cervix
10	chr6:166754800-166757000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:166754800-166757000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:166754800-166757000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:166754800-166757000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:166754800-166757000	Active TSS	Colonic Mucosa	Colon
15	chr6:166754800-166757200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:166755000-166756200	Active TSS	Primary T cells fromperipheralblood	blood
17	chr6:166755000-166756200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:166755000-166756200	Active TSS	Fetal Muscle Trunk	muscle
19	chr6:166755000-166756400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:166755000-166756600	Active TSS	Aorta	Aorta
21	chr6:166755000-166756600	Active TSS	Brain Substantia Nigra	brain
22	chr6:166755000-166756800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:166755000-166756800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr6:166755000-166756800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:166755000-166756800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr6:166755000-166756800	Active TSS	Lung	lung
27	chr6:166755000-166756800	Active TSS	Ovary	ovary
28	chr6:166755000-166756800	Active TSS	Rectal Smooth Muscle	rectum
29	chr6:166755000-166756800	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr6:166755000-166756800	Active TSS	NHDF-Ad	bronchial
31	chr6:166755000-166757000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr6:166755000-166757000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr6:166755000-166757000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:166755000-166757000	Active TSS	Left Ventricle	heart
35	chr6:166755000-166757000	Active TSS	Psoas Muscle	Psoas
36	chr6:166755000-166757200	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr6:166755000-166757200	Active TSS	A549	lung
38	chr6:166755000-166757200	Active TSS	NHLF	lung
39	chr6:166755200-166756200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:166755200-166756400	Active TSS	Primary B cells from peripheral blood	blood
41	chr6:166755200-166756400	Active TSS	Primary T cells from cord blood	blood
42	chr6:166755200-166756400	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr6:166755200-166756400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr6:166755200-166756400	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr6:166755200-166756400	Active TSS	Brain Hippocampus Middle	brain
46	chr6:166755200-166756400	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr6:166755200-166756600	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr6:166755200-166756600	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:166755200-166756600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:166755200-166756600	Active TSS	Primary T helper naive cells from peripheral blood	blood

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