Variant report

Variant	rs34988221
Chromosome Location	chr6:133080446-133080447
allele	A/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:1)
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	chr6:133080438-133080488	AoSMC	blood vessel:	n/a
2	chr6:133080438-133080488	GM19239	blood:	n/a
3	chr6:133080438-133080488	SK-N-MC	brain:	n/a
4	chr6:133080438-133080488	HNPCEpiC	eye:	n/a
5	chr6:133080438-133080488	AG09309	skin:	n/a
6	chr6:133080438-133080488	GM12878	blood:	n/a
7	chr6:133080438-133080488	BJ	skin:	n/a
8	chr6:133080438-133080488	ECC-1	luminal epithelium:	n/a
9	chr6:133080438-133080488	NB4	blood:	n/a
10	chr6:133080438-133080488	NHBE	bronchial:	n/a
11	chr6:133080438-133080488	SK-N-SH_RA	brain:	n/a
12	chr6:133080438-133080488	Hela-S3	cervix:	n/a
13	chr6:133080438-133080488	HEK293	kidney:	embryo
14	chr6:133080438-133080488	AG04450	lung:	fetal
15	chr6:133080438-133080488	U87	brain:	n/a
16	chr6:133080438-133080488	HCT-116	colon:	n/a
17	chr6:133080438-133080488	PANC-1	pancreas:	n/a
18	chr6:133080438-133080488	SK-N-SH	brain:	n/a
19	chr6:133080438-133080488	IMR90	lung:	fetal
20	chr6:133080438-133080488	AG04449	skin:	fetal
21	chr6:133080438-133080488	HEEpiC	esophagus:	n/a
22	chr6:133080438-133080488	RPTEC	kidney:	n/a
23	chr6:133080438-133080488	AG09319	gingival:	n/a
24	chr6:133080438-133080488	PrEC	prostate:	n/a
25	chr6:133080438-133080488	MCF10A-Er-Src	breast:	n/a
26	chr6:133080438-133080488	ProgFib	skin:	n/a
27	chr6:133080438-133080488	HL-60	blood:	n/a
28	chr6:133080438-133080488	HRE	kidney:	n/a
29	chr6:133080438-133080488	SAEC	small airway:	n/a
30	chr6:133080438-133080488	HIPEpiC	eye:	n/a
31	chr6:133080438-133080488	T-47D	breast:	n/a
32	chr6:133080438-133080488	H1-hESC	embryonic stem cell:	embryo
33	chr6:133080438-133080488	GM06990	blood:	n/a
34	chr6:133080438-133080488	Caco-2	colon:	n/a
35	chr6:133080438-133080488	MCF-7	breast:	n/a
36	chr6:133080438-133080488	HPAEpiC	pulmonary alveolar:	n/a
37	chr6:133080438-133080488	Hepatocyte	liver:	n/a
38	chr6:133080438-133080488	NHDF-neo	bronchial:	n/a
39	chr6:133080438-133080488	CMK	blood:	n/a
40	chr6:133080438-133080488	LNCaP	prostate:	n/a
41	chr6:133080438-133080488	ovcar-3	ovarian:	n/a
42	chr6:133080438-133080488	SKMC	muscle:	n/a
43	chr6:133080438-133080488	HCPEpiC	choroid plexus:	n/a
44	chr6:133080438-133080488	GM12891	blood:	n/a
45	chr6:133080438-133080488	Jurkat	blood:	n/a
46	chr6:133080438-133080488	HRCEpiC	kidney:	n/a
47	chr6:133080438-133080488	PFSK-1	brain:	n/a
48	chr6:133080438-133080488	HCM	heart:	n/a
49	chr6:133080438-133080488	NH-A	brain:	n/a
50	chr6:133080438-133080488	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133077337..133079211-chr6:133079475..133082173,2	K562	blood:

No data

Variant related genes	Relation type
VNN2	CpG island
ENSG00000112303	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11755373	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3756973	0.93[EUR][1000 genomes]
rs58155972	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59215803	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59436045	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59989552	0.85[EUR][1000 genomes]
rs60574213	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61632110	0.85[EUR][1000 genomes]
rs73548506	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73548522	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73550478	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73554430	0.85[EUR][1000 genomes]
rs998630	0.81[EUR][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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133061400-133098000	Weak transcription	Spleen	Spleen
2	chr6:133064200-133083000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:133065000-133098000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:133068800-133083200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:133069600-133083200	Weak transcription	Thymus	Thymus
6	chr6:133072800-133082000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:133072800-133084400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:133072800-133084800	Weak transcription	Stomach Mucosa	stomach
9	chr6:133073200-133083200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:133075800-133083600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:133078200-133081600	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:133078800-133081400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr6:133078800-133081600	Enhancers	Placenta	Placenta
14	chr6:133078800-133081800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:133078800-133083000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:133079000-133080600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:133079000-133081200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr6:133079000-133083000	Enhancers	GM12878-XiMat	blood
19	chr6:133079000-133083200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:133079000-133083200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:133079000-133083200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:133079000-133083600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:133079000-133083800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:133079000-133084800	Weak transcription	Liver	Liver
25	chr6:133079000-133085000	Weak transcription	A549	lung
26	chr6:133079400-133083200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:133079800-133081800	Strong transcription	Primary T cells from cord blood	blood
28	chr6:133080000-133081800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:133080000-133082000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr6:133080000-133082800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr6:133080000-133083200	Weak transcription	Primary B cells from cord blood	blood
32	chr6:133080200-133082200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr6:133080200-133083200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:133080400-133085000	Weak transcription	Adipose Nuclei	Adipose
35	chr6:133080400-133085200	Weak transcription	Right Atrium	heart

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