Variant report

Variant	rs1168967
Chromosome Location	chr2:96826016-96826017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96820286..96828646-chr2:96829192..96834775,11	K562	blood:
2	chr2:96820873..96826236-chr2:96872266..96875542,4	K562	blood:
3	chr2:96824942..96826995-chr2:96828111..96830787,2	MCF-7	breast:
4	chr2:96819343..96823786-chr2:96825420..96829084,5	K562	blood:
5	chr2:96825347..96828003-chr2:96929787..96932751,2	K562	blood:

Variant related genes	Relation type
ENSG00000144021	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000135956	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1030864	0.83[EUR][1000 genomes]
rs1168966	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1168968	0.83[EUR][1000 genomes]
rs1168970	0.83[EUR][1000 genomes]
rs1168972	0.83[EUR][1000 genomes]
rs1168974	0.83[EUR][1000 genomes]
rs1168975	0.83[EUR][1000 genomes]
rs1168976	0.83[EUR][1000 genomes]
rs13009727	0.81[EUR][1000 genomes]
rs13019188	0.92[EUR][1000 genomes]
rs1657502	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1724121	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1724125	0.81[EUR][1000 genomes]
rs2252697	0.90[EUR][1000 genomes]
rs2576437	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2918916	0.82[EUR][1000 genomes]
rs2969490	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs749457	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs749459	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs893173	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv1825266	chr2:96704118-96830753	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	esv1819594	chr2:96755038-96833480	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
8	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription 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	162 gene(s)	inside rSNPs	diseases
9	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
10	nsv1007132	chr2:96767204-96829489	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1168967	GPAT2	cis	Muscle Skeletal	GTEx
rs1168967	ADRA2B	cis	Thyroid	GTEx
rs1168967	FAHD2CP	cis	lung	GTEx
rs1168967	FAHD2CP	cis	Muscle Skeletal	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96814400-96840000	Weak transcription	Right Atrium	heart
2	chr2:96818600-96827800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:96821000-96831800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:96823600-96827600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:96823800-96827000	Enhancers	Thymus	Thymus
6	chr2:96823800-96829200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr2:96824200-96827800	Weak transcription	Colonic Mucosa	Colon
8	chr2:96824200-96829200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr2:96824200-96829200	Enhancers	Fetal Thymus	thymus
10	chr2:96824200-96829800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:96824600-96827600	Enhancers	GM12878-XiMat	blood
12	chr2:96824600-96830400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:96824800-96827600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:96824800-96827600	Weak transcription	K562	blood
15	chr2:96825000-96830200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:96825200-96827600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:96825200-96829200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:96825400-96828800	Weak transcription	Spleen	Spleen
19	chr2:96825600-96827000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:96825600-96827600	Weak transcription	Primary T cells from cord blood	blood
21	chr2:96825600-96828600	Weak transcription	Primary B cells from cord blood	blood
22	chr2:96825600-96828800	Weak transcription	Dnd41	blood
23	chr2:96825600-96829200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:96825800-96826600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:96825800-96827600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:96825800-96827600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:96825800-96827600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:96825800-96827600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:96825800-96827600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:96825800-96828000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:96826000-96826400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:96826000-96827600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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