Variant report

Variant	rs62441827
Chromosome Location	chr6:150285128-150285129
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr6:150284636-150285279	K562	blood:	n/a	n/a
2	ELK1	chr6:150284962-150285178	K562	blood:	n/a	n/a
3	MAX	chr6:150284198-150285333	K562	blood:	n/a	chr6:150284987-150284996 chr6:150285295-150285305 chr6:150284531-150284540
4	ZNF143	chr6:150284985-150285167	GM12878	blood:	n/a	chr6:150285094-150285112
5	ZNF263	chr6:150284744-150285771	HEK293-T-REx	kidney:	n/a	n/a
6	CTCF	chr6:150285100-150285250	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr6:150285040-150285190	HRE	kidney:	n/a	n/a
8	ATF1	chr6:150284609-150285207	K562	blood:	n/a	n/a
9	FOXA1	chr6:150284915-150285242	T-47D	breast:	n/a	n/a
10	EGR1	chr6:150284155-150285435	HCT-116	colon:	n/a	chr6:150284960-150284974 chr6:150284963-150284972 chr6:150284942-150284951 chr6:150284960-150284973 chr6:150284963-150284973 chr6:150284961-150284975 chr6:150284960-150284973 chr6:150285294-150285304 chr6:150284962-150284972 chr6:150284960-150284973 chr6:150284960-150284973
11	E2F6	chr6:150284609-150285311	K562	blood:	n/a	n/a
12	SMARCB1	chr6:150284345-150285713	Hela-S3	cervix:	n/a	chr6:150284356-150284365
13	MXI1	chr6:150284499-150285327	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:150285080-150285230	HMF	breast:	n/a	n/a
15	POLR2A	chr6:150284582-150285480	PBDE	blood:	n/a	n/a
16	MXI1	chr6:150284561-150285247	Hela-S3	cervix:	n/a	n/a
17	ZMIZ1	chr6:150284371-150285270	K562	blood:	n/a	n/a
18	EGR1	chr6:150284666-150285262	MCF-7	breast:	n/a	chr6:150284960-150284974 chr6:150284963-150284972 chr6:150284942-150284951 chr6:150284960-150284973 chr6:150284963-150284973 chr6:150284961-150284975 chr6:150284960-150284973 chr6:150284962-150284972 chr6:150284960-150284973 chr6:150284960-150284973
19	POLR2A	chr6:150284798-150285246	HUVEC	blood vessel:	n/a	n/a
20	FOXA1	chr6:150284993-150285221	T-47D	breast:	n/a	n/a
21	CTCF	chr6:150285040-150285190	HPAF	blood vessel:	n/a	n/a
22	SIN3A	chr6:150284304-150285678	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr6:150284737-150285189	Gliobla	brain:	n/a	n/a
24	POLR2A	chr6:150284685-150285392	ProgFib	skin:	n/a	n/a
25	HCFC1	chr6:150283976-150285272	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr6:150284611-150285349	SK-N-MC	brain:	n/a	n/a
27	CTCF	chr6:150285080-150285230	HUVEC	blood vessel:	n/a	n/a
28	MAX	chr6:150284816-150285290	H1-hESC	embryonic stem cell:	n/a	chr6:150284987-150284996
29	CTCF	chr6:150285040-150285190	AG09309	skin:	n/a	n/a
30	MAX	chr6:150284248-150285357	K562	blood:	n/a	chr6:150284987-150284996 chr6:150285295-150285305 chr6:150284531-150284540
31	MYC	chr6:150284310-150285251	K562	blood:	n/a	chr6:150284987-150284996 chr6:150284531-150284540
32	MAX	chr6:150284143-150285482	MCF-7	breast:	n/a	chr6:150284987-150284996 chr6:150285295-150285305 chr6:150284531-150284540
33	E2F6	chr6:150285064-150285252	K562	blood:	n/a	n/a
34	SIN3AK20	chr6:150284773-150285161	A549	lung:	n/a	n/a
35	FOXP2	chr6:150284888-150285232	SK-N-MC	brain:	n/a	n/a
36	CEBPB	chr6:150284116-150285267	HCT-116	colon:	n/a	n/a
37	CTCF	chr6:150284980-150285130	AG04450	lung:	n/a	n/a
38	YY1	chr6:150284601-150285159	HCT-116	colon:	n/a	chr6:150284939-150284953
39	SETDB1	chr6:150284717-150286490	K562	blood:	n/a	n/a
40	CTCF	chr6:150285060-150285210	HMEC	breast:	n/a	n/a
41	MAX	chr6:150284449-150285165	NB4	blood:	n/a	chr6:150284987-150284996 chr6:150284531-150284540
42	CTCF	chr6:150285060-150285210	HEK293	kidney:	n/a	n/a
43	CEBPD	chr6:150284735-150285179	K562	blood:	n/a	n/a
44	CTCF	chr6:150285040-150285190	HBMEC	blood vessel:	n/a	n/a
45	SUZ12	chr6:150284977-150287047	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTBP2	chr6:150284500-150285947	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF3	chr6:150284718-150285281	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr6:150284512-150285459	H1-hESC	embryonic stem cell:	n/a	chr6:150284987-150284996 chr6:150285295-150285305 chr6:150284531-150284540
49	CTCF	chr6:150284980-150285130	BJ	skin:	n/a	n/a
50	PML	chr6:150284775-150285312	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:150285088-150285138	T-47D	breast:	n/a
2	chr6:150285088-150285138	BJ	skin:	n/a
3	chr6:150285088-150285138	HCPEpiC	choroid plexus:	n/a
4	chr6:150285088-150285138	AG09319	gingival:	n/a
5	chr6:150285088-150285138	HRCEpiC	kidney:	n/a
6	chr6:150285088-150285138	AoSMC	blood vessel:	n/a
7	chr6:150285088-150285138	HNPCEpiC	eye:	n/a
8	chr6:150285088-150285138	SKMC	muscle:	n/a
9	chr6:150285088-150285138	MCF10A-Er-Src	breast:	n/a
10	chr6:150285088-150285138	K562	blood:	n/a
11	chr6:150285088-150285138	HL-60	blood:	n/a
12	chr6:150285088-150285138	HRE	kidney:	n/a
13	chr6:150285088-150285138	NT2-D1	testis:	n/a
14	chr6:150285088-150285138	HepG2	liver:	n/a
15	chr6:150285088-150285138	HCF	heart:	n/a
16	chr6:150285088-150285138	LNCaP	prostate:	n/a
17	chr6:150285088-150285138	PANC-1	pancreas:	n/a
18	chr6:150285088-150285138	AG10803	skin:	n/a
19	chr6:150285088-150285138	HCM	heart:	n/a
20	chr6:150285088-150285138	Hepatocyte	liver:	n/a
21	chr6:150285088-150285138	GM19239	blood:	n/a
22	chr6:150285088-150285138	HEK293	kidney:	embryo
23	chr6:150285088-150285138	NB4	blood:	n/a
24	chr6:150285088-150285138	NHDF-neo	bronchial:	n/a
25	chr6:150285088-150285138	ProgFib	skin:	n/a
26	chr6:150285088-150285138	H1-hESC	embryonic stem cell:	embryo
27	chr6:150285088-150285138	HEEpiC	esophagus:	n/a
28	chr6:150285088-150285138	AG09309	skin:	n/a
29	chr6:150285088-150285138	HIPEpiC	eye:	n/a
30	chr6:150285088-150285138	BE2_C	brain:	n/a
31	chr6:150285088-150285138	GM12891	blood:	n/a
32	chr6:150285088-150285138	HRPEpiC	eye:	n/a
33	chr6:150285088-150285138	PrEC	prostate:	n/a
34	chr6:150285088-150285138	MCF-7	breast:	n/a
35	chr6:150285088-150285138	AG04449	skin:	fetal
36	chr6:150285088-150285138	HAEpiC	amniotic membrane:	n/a
37	chr6:150285088-150285138	PFSK-1	brain:	n/a
38	chr6:150285088-150285138	Caco-2	colon:	n/a
39	chr6:150285088-150285138	IMR90	lung:	fetal
40	chr6:150285088-150285138	U87	brain:	n/a
41	chr6:150285088-150285138	AG04450	lung:	fetal
42	chr6:150285088-150285138	HCT-116	colon:	n/a
43	chr6:150285088-150285138	RPTEC	kidney:	n/a
44	chr6:150285088-150285138	SAEC	small airway:	n/a
45	chr6:150285088-150285138	SK-N-MC	brain:	n/a
46	chr6:150285088-150285138	HUVEC	blood vessel:	n/a
47	chr6:150285088-150285138	SK-N-SH	brain:	n/a
48	chr6:150285088-150285138	GM06990	blood:	n/a
49	chr6:150285088-150285138	GM12878	blood:	n/a
50	chr6:150285088-150285138	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:22351702..22352450-chr6:150284724..150285244,2	Hela-S3	cervix:

Variant related genes	Relation type
ULBP1	TF binding region
ULBP1	CpG island
ENSG00000218510	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12110668	0.90[EUR][1000 genomes]
rs60019696	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61742437	0.94[EUR][1000 genomes]
rs62439707	1.00[ASN][1000 genomes]
rs62439751	1.00[ASN][1000 genomes]
rs62439756	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62441761	0.81[AFR][1000 genomes]
rs62441823	1.00[ASN][1000 genomes]
rs62441826	0.97[EUR][1000 genomes]
rs62441829	1.00[ASN][1000 genomes]
rs62441831	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62441833	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62441839	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62441840	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62442281	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73614653	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73614656	0.92[EUR][1000 genomes]
rs7742307	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9688944	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150284000-150285200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:150284000-150286600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:150284200-150285200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr6:150284200-150285200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
5	chr6:150284200-150285200	Enhancers	Spleen	Spleen
6	chr6:150284200-150285400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:150284200-150285600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr6:150284200-150285600	Active TSS	A549	lung
9	chr6:150284200-150285800	Flanking Active TSS	Dnd41	blood
10	chr6:150284200-150286000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:150284200-150286200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:150284200-150286400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
13	chr6:150284200-150286600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
14	chr6:150284200-150286600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
15	chr6:150284200-150286600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
16	chr6:150284200-150286800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr6:150284200-150286800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr6:150284200-150286800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:150284200-150287000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr6:150284400-150285200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr6:150284400-150285200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr6:150284400-150285200	Active TSS	Right Atrium	heart
23	chr6:150284400-150285200	Bivalent/Poised TSS	Thymus	Thymus
24	chr6:150284400-150285400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
25	chr6:150284400-150285400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:150284400-150285400	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr6:150284400-150285600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr6:150284400-150285800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
29	chr6:150284400-150285800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
30	chr6:150284400-150285800	Active TSS	Hela-S3	cervix
31	chr6:150284400-150286200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
32	chr6:150284400-150286400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:150284400-150286400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
34	chr6:150284400-150286400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
35	chr6:150284400-150286400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr6:150284400-150286400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
37	chr6:150284400-150286600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
43	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Placenta	Placenta
46	chr6:150284400-150286600	Bivalent/Poised TSS	Psoas Muscle	Psoas
47	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
48	chr6:150284400-150286800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:150284400-150286800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr6:150284400-150286800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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