Variant report

Variant	rs4133317
Chromosome Location	chr6:150262786-150262787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:150262737-150263565	HUVEC	blood vessel:	n/a	n/a
2	SP4	chr6:150262705-150263098	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr6:150262634-150263201	K562	blood:	n/a	n/a
4	MAX	chr6:150262581-150263361	MCF-7	breast:	n/a	n/a
5	MAX	chr6:150262679-150263437	A549	lung:	n/a	n/a
6	POLR2A	chr6:150262774-150263521	MCF-7	breast:	n/a	n/a
7	MXI1	chr6:150262484-150263566	SK-N-SH	brain:	n/a	n/a
8	MAX	chr6:150262573-150263523	A549	lung:	n/a	n/a
9	POLR2A	chr6:150262785-150263350	SK-N-MC	brain:	n/a	n/a
10	MAX	chr6:150262614-150263299	K562	blood:	n/a	n/a
11	SP1	chr6:150262760-150263256	A549	lung:	n/a	chr6:150263018-150263032 chr6:150262808-150262822
12	E2F6	chr6:150262665-150263318	A549	lung:	n/a	chr6:150263107-150263116 chr6:150263043-150263052 chr6:150263097-150263104 chr6:150262855-150262865 chr6:150263097-150263104 chr6:150263097-150263104
13	CCNT2	chr6:150262706-150263315	K562	blood:	n/a	n/a
14	POLR2A	chr6:150262740-150263509	K562	blood:	n/a	n/a
15	STAT3	chr6:150262695-150263303	MCF10A-Er-Src	breast:	n/a	chr6:150263018-150263030
16	MYC	chr6:150262723-150263247	K562	blood:	n/a	n/a
17	SP2	chr6:150262740-150263154	K562	blood:	n/a	n/a
18	CTBP2	chr6:150262374-150263823	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr6:150262728-150263178	K562	blood:	n/a	n/a
20	POLR2A	chr6:150262589-150263536	U87	brain:	n/a	n/a
21	GABPA	chr6:150262610-150263770	MCF-7	breast:	n/a	n/a
22	POLR2A	chr6:150262777-150263384	HCT-116	colon:	n/a	n/a
23	POLR2A	chr6:150262549-150263478	H1-neurons	neurons:	n/a	n/a
24	REST	chr6:150262686-150263706	H1-neurons	neurons:	n/a	n/a
25	STAT3	chr6:150262772-150263293	MCF10A-Er-Src	breast:	n/a	chr6:150263018-150263030
26	MAX	chr6:150262708-150263397	ECC-1	luminal epithelium:	n/a	n/a
27	TCF12	chr6:150262683-150263544	ECC-1	luminal epithelium:	n/a	n/a
28	E2F6	chr6:150262667-150263364	K562	blood:	n/a	chr6:150263107-150263116 chr6:150263043-150263052 chr6:150263097-150263104 chr6:150262855-150262865 chr6:150263097-150263104 chr6:150263097-150263104
29	MAX	chr6:150262655-150263432	ECC-1	luminal epithelium:	n/a	n/a
30	NR2F2	chr6:150262553-150263407	K562	blood:	n/a	n/a
31	CBX3	chr6:150262653-150263485	K562	blood:	n/a	n/a
32	POLR2A	chr6:150262583-150263536	U87	brain:	n/a	n/a
33	MAX	chr6:150262694-150263464	MCF-7	breast:	n/a	n/a
34	E2F6	chr6:150262634-150263465	K562	blood:	n/a	chr6:150263107-150263116 chr6:150263043-150263052 chr6:150263097-150263104 chr6:150262855-150262865 chr6:150263097-150263104 chr6:150263097-150263104
35	POLR2A	chr6:150262662-150263443	U87	brain:	n/a	n/a
36	FOXP2	chr6:150262668-150262830	PFSK-1	brain:	n/a	n/a
37	RCOR1	chr6:150262721-150263383	K562	blood:	n/a	n/a
38	POLR2A	chr6:150262652-150263603	H1-neurons	neurons:	n/a	n/a
39	MAX	chr6:150262672-150263158	K562	blood:	n/a	n/a
40	MAZ	chr6:150262633-150263650	IMR90	lung:	n/a	n/a
41	POLR2A	chr6:150262774-150263384	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr6:150262774-150263344	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr6:150262717-150263508	HUVEC	blood vessel:	n/a	n/a
44	SIN3AK20	chr6:150262693-150263410	PANC-1	pancreas:	n/a	n/a
45	MAX	chr6:150262570-150263399	K562	blood:	n/a	n/a
46	JUN	chr6:150262526-150263619	K562	blood:	n/a	n/a
47	POLR2A	chr6:150262760-150263341	HCT-116	colon:	n/a	n/a
48	POLR2A	chr6:150262750-150263374	HEK293	kidney:	n/a	n/a
49	ETS1	chr6:150262672-150262907	K562	blood:	n/a	chr6:150262854-150262865
50	MAZ	chr6:150262745-150263445	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:150262763-150262813	RPTEC	kidney:	n/a
2	chr6:150262763-150262813	HRE	kidney:	n/a
3	chr6:150262763-150262813	AG09319	gingival:	n/a
4	chr6:150262771-150262821	HNPCEpiC	eye:	n/a
5	chr6:150262763-150262813	U87	brain:	n/a
6	chr6:150262771-150262821	GM12892	blood:	n/a
7	chr6:150262771-150262821	LNCaP	prostate:	n/a
8	chr6:150262763-150262813	SK-N-MC	brain:	n/a
9	chr6:150262771-150262821	SAEC	small airway:	n/a
10	chr6:150262763-150262813	LNCaP	prostate:	n/a
11	chr6:150262763-150262813	NH-A	brain:	n/a
12	chr6:150262771-150262821	MCF10A-Er-Src	breast:	n/a
13	chr6:150262763-150262813	SKMC	muscle:	n/a
14	chr6:150262763-150262813	AG04450	lung:	fetal
15	chr6:150262763-150262813	IMR90	lung:	fetal
16	chr6:150262771-150262821	AG04449	skin:	fetal
17	chr6:150262763-150262813	T-47D	breast:	n/a
18	chr6:150262771-150262821	HMEC	breast:	n/a
19	chr6:150262771-150262821	NHDF-neo	bronchial:	n/a
20	chr6:150262771-150262821	NH-A	brain:	n/a
21	chr6:150262771-150262821	HCF	heart:	n/a
22	chr6:150262771-150262821	IMR90	lung:	fetal
23	chr6:150262771-150262821	Hela-S3	cervix:	n/a
24	chr6:150262771-150262821	HCT-116	colon:	n/a
25	chr6:150262763-150262813	HUVEC	blood vessel:	n/a
26	chr6:150262771-150262821	Caco-2	colon:	n/a
27	chr6:150262771-150262821	HCPEpiC	choroid plexus:	n/a
28	chr6:150262763-150262813	HRCEpiC	kidney:	n/a
29	chr6:150262771-150262821	H1-hESC	embryonic stem cell:	embryo
30	chr6:150262763-150262813	Hepatocyte	liver:	n/a
31	chr6:150262771-150262821	Hepatocyte	liver:	n/a
32	chr6:150262763-150262813	GM06990	blood:	n/a
33	chr6:150262763-150262813	ECC-1	luminal epithelium:	n/a
34	chr6:150262763-150262813	BJ	skin:	n/a
35	chr6:150262763-150262813	SK-N-SH	brain:	n/a
36	chr6:150262763-150262813	HEK293	kidney:	embryo
37	chr6:150262763-150262813	MCF-7	breast:	n/a
38	chr6:150262771-150262821	SK-N-SH_RA	brain:	n/a
39	chr6:150262763-150262813	K562	blood:	n/a
40	chr6:150262763-150262813	NHDF-neo	bronchial:	n/a
41	chr6:150262771-150262821	NT2-D1	testis:	n/a
42	chr6:150262763-150262813	GM19239	blood:	n/a
43	chr6:150262763-150262813	MCF10A-Er-Src	breast:	n/a
44	chr6:150262763-150262813	HCT-116	colon:	n/a
45	chr6:150262763-150262813	NT2-D1	testis:	n/a
46	chr6:150262763-150262813	AG04449	skin:	fetal
47	chr6:150262763-150262813	HCPEpiC	choroid plexus:	n/a
48	chr6:150262763-150262813	HCM	heart:	n/a
49	chr6:150262771-150262821	HUVEC	blood vessel:	n/a
50	chr6:150262763-150262813	AoSMC	blood vessel:	n/a

No data

Variant related genes	Relation type
ULBP2	TF binding region
ULBP2	CpG island

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10499261	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes]
rs12524576	0.84[CHD][hapmap]
rs12529569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap]
rs12664934	0.81[AMR][1000 genomes]
rs1535955	0.91[CHB][hapmap];0.88[CHD][hapmap];0.80[JPT][hapmap]
rs17079064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17079068	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17079076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17079081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17079083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17079087	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17079117	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17079127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17079130	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs2018074	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2343264	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4084448	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4273697	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4283897	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4354166	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4425606	0.95[CHB][hapmap];0.93[CHD][hapmap]
rs4473866	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4504486	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4591860	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57923090	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59712181	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60324886	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61233579	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6557194	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6557200	0.82[CHD][hapmap]
rs7740713	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs7744918	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7745903	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7760608	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes]
rs7764321	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7767362	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9791229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv886765	chr6:150198491-150288722	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1817805	chr6:150209592-150268708	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3332714	chr6:150259037-150275045	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv970174	chr6:150262064-150263659	Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4133317	ULBP2	cis	multi-tissue	Pritchard

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150261400-150264000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:150261800-150263200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:150262200-150262800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
4	chr6:150262200-150263200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:150262400-150262800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
6	chr6:150262400-150262800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr6:150262400-150262800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:150262400-150262800	Bivalent Enhancer	Fetal Brain Male	brain
9	chr6:150262400-150262800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr6:150262400-150262800	Bivalent Enhancer	Small Intestine	intestine
11	chr6:150262400-150262800	Enhancers	Spleen	Spleen
12	chr6:150262400-150263000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
13	chr6:150262400-150263000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:150262400-150263000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr6:150262400-150263000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
16	chr6:150262400-150263200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:150262400-150263400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:150262400-150263400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:150262400-150263400	Active TSS	Right Ventricle	heart
20	chr6:150262400-150263400	Active TSS	HSMM	muscle
21	chr6:150262400-150263600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
22	chr6:150262400-150263600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr6:150262400-150263800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:150262400-150263800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr6:150262400-150263800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:150262400-150263800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:150262400-150263800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:150262400-150263800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:150262400-150263800	Active TSS	Brain Angular Gyrus	brain
30	chr6:150262400-150263800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr6:150262400-150263800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr6:150262400-150263800	Active TSS	HSMMtube	muscle
33	chr6:150262400-150264000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:150262400-150264000	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr6:150262400-150264000	Active TSS	NHLF	lung
36	chr6:150262600-150262800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:150262600-150262800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
38	chr6:150262600-150262800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr6:150262600-150262800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
40	chr6:150262600-150262800	Flanking Active TSS	Esophagus	oesophagus
41	chr6:150262600-150262800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
42	chr6:150262600-150262800	Active TSS	Dnd41	blood
43	chr6:150262600-150262800	Flanking Active TSS	HMEC	breast
44	chr6:150262600-150262800	Flanking Active TSS	K562	blood
45	chr6:150262600-150262800	Bivalent/Poised TSS	NH-A	brain
46	chr6:150262600-150263000	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr6:150262600-150263000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
48	chr6:150262600-150263000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:150262600-150263000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
50	chr6:150262600-150263000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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