Variant report

Variant	rs12668032
Chromosome Location	chr7:5919040-5919041
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5919012-5919062	Jurkat	blood:	n/a
2	chr7:5919012-5919062	RPTEC	kidney:	n/a
3	chr7:5919012-5919062	HUVEC	blood vessel:	n/a
4	chr7:5919012-5919062	HEEpiC	esophagus:	n/a
5	chr7:5919012-5919062	H1-hESC	embryonic stem cell:	embryo
6	chr7:5919012-5919062	AG09309	skin:	n/a
7	chr7:5919012-5919062	HIPEpiC	eye:	n/a
8	chr7:5919012-5919062	ECC-1	luminal epithelium:	n/a
9	chr7:5919012-5919062	HCM	heart:	n/a
10	chr7:5919012-5919062	GM19239	blood:	n/a
11	chr7:5919012-5919062	T-47D	breast:	n/a
12	chr7:5919012-5919062	AG09319	gingival:	n/a
13	chr7:5919012-5919062	NT2-D1	testis:	n/a
14	chr7:5919012-5919062	GM12892	blood:	n/a
15	chr7:5919012-5919062	BE2_C	brain:	n/a
16	chr7:5919012-5919062	SK-N-MC	brain:	n/a
17	chr7:5919012-5919062	Hela-S3	cervix:	n/a
18	chr7:5919012-5919062	AG04450	lung:	fetal
19	chr7:5919012-5919062	HCF	heart:	n/a
20	chr7:5919012-5919062	GM12891	blood:	n/a
21	chr7:5919012-5919062	CMK	blood:	n/a
22	chr7:5919012-5919062	ovcar-3	ovarian:	n/a
23	chr7:5919012-5919062	NHBE	bronchial:	n/a
24	chr7:5919012-5919062	PrEC	prostate:	n/a
25	chr7:5919012-5919062	SAEC	small airway:	n/a
26	chr7:5919012-5919062	NH-A	brain:	n/a
27	chr7:5919012-5919062	SK-N-SH_RA	brain:	n/a
28	chr7:5919012-5919062	AoSMC	blood vessel:	n/a
29	chr7:5919012-5919062	AG04449	skin:	fetal
30	chr7:5919012-5919062	K562	blood:	n/a
31	chr7:5919012-5919062	NB4	blood:	n/a
32	chr7:5919012-5919062	HepG2	liver:	n/a
33	chr7:5919012-5919062	ProgFib	skin:	n/a
34	chr7:5919012-5919062	NHDF-neo	bronchial:	n/a
35	chr7:5919012-5919062	GM12878	blood:	n/a
36	chr7:5919012-5919062	HL-60	blood:	n/a
37	chr7:5919012-5919062	HRPEpiC	eye:	n/a
38	chr7:5919012-5919062	HMEC	breast:	n/a
39	chr7:5919012-5919062	Caco-2	colon:	n/a
40	chr7:5919012-5919062	PFSK-1	brain:	n/a
41	chr7:5919012-5919062	HAEpiC	amniotic membrane:	n/a
42	chr7:5919012-5919062	SK-N-SH	brain:	n/a
43	chr7:5919012-5919062	IMR90	lung:	fetal
44	chr7:5919012-5919062	PANC-1	pancreas:	n/a
45	chr7:5919012-5919062	HEK293	kidney:	embryo
46	chr7:5919012-5919062	MCF10A-Er-Src	breast:	n/a
47	chr7:5919012-5919062	SKMC	muscle:	n/a
48	chr7:5919012-5919062	Hepatocyte	liver:	n/a
49	chr7:5919012-5919062	AG10803	skin:	n/a
50	chr7:5919012-5919062	HCT-116	colon:	n/a

No data

Variant related genes	Relation type
OCM	CpG island

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1971651	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2108071	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs57212843	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62457660	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
2	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
3	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
4	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
5	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
6	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
7	nsv1028601	chr7:5748982-5919098	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
9	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
10	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
11	nsv887420	chr7:5801820-5963545	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
13	nsv521589	chr7:5807959-5927956	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
15	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
16	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
17	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
18	nsv887423	chr7:5826501-5919280	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv1017079	chr7:5828319-5936888	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv521919	chr7:5834567-5927956	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv830892	chr7:5842044-5995489	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv1025720	chr7:5853557-5934780	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
23	nsv433017	chr7:5853557-6045391	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv1024555	chr7:5856063-5930582	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv887424	chr7:5863379-5927956	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv1030492	chr7:5868561-5936888	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv1024675	chr7:5868561-5965441	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv1027345	chr7:5874854-5931883	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv887425	chr7:5879004-5925156	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	nsv1017061	chr7:5885326-6026706	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
31	nsv1031583	chr7:5889011-5970922	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	nsv830894	chr7:5889658-6072215	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
33	nsv1026461	chr7:5891977-5970922	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
34	nsv981428	chr7:5899882-5954957	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12668032	EIF2AK1	cis	parietal	SCAN
rs12668032	EIF2AK1	cis	lymphoblastoid	seeQTL
rs12668032	EIF2AK1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5890000-5924600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:5895400-5938000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:5899200-5937400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr7:5908600-5925600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:5912200-5919400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:5917600-5919800	Enhancers	Fetal Brain Male	brain
7	chr7:5917800-5920600	Enhancers	Brain Hippocampus Middle	brain
8	chr7:5918000-5919600	Weak transcription	Brain Substantia Nigra	brain
9	chr7:5918600-5920600	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:5918800-5920400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:5919000-5919400	Enhancers	HSMM	muscle
12	chr7:5919000-5919800	Enhancers	HSMMtube	muscle
13	chr7:5919000-5920600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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