Variant report

Variant	rs6921687
Chromosome Location	chr6:30875305-30875306
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr6:30875066-30875481	HepG2	liver:	n/a	n/a
2	HDAC2	chr6:30874961-30875341	HepG2	liver:	n/a	n/a
3	NR2F2	chr6:30875067-30876554	K562	blood:	n/a	n/a
4	HCFC1	chr6:30874943-30876583	Hela-S3	cervix:	n/a	n/a
5	TCF12	chr6:30875294-30876353	A549	lung:	n/a	n/a
6	RPC155	chr6:30875003-30875803	Hela-S3	cervix:	n/a	n/a
7	FOXA2	chr6:30875033-30875354	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:30875159-30875442	HepG2	liver:	n/a	n/a
9	TBL1XR1	chr6:30875292-30876084	K562	blood:	n/a	n/a
10	KAP1	chr6:30875264-30876116	HEK293	kidney:	n/a	n/a
11	POLR2A	chr6:30875252-30875430	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:30875159-30876209	HepG2	liver:	n/a	n/a
13	GTF3C2	chr6:30875083-30875852	Hela-S3	cervix:	n/a	n/a
14	JUN	chr6:30874741-30876898	K562	blood:	n/a	chr6:30875712-30875721
15	MAX	chr6:30875155-30876372	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:30875181-30876346	HepG2	liver:	n/a	n/a
17	MYBL2	chr6:30875171-30876396	HepG2	liver:	n/a	n/a
18	GTF3C2	chr6:30875205-30875940	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:30849687..30852078-chr6:30875212..30877587,2	K562	blood:
2	chr6:30707481..30713943-chr6:30872979..30880006,10	MCF-7	breast:
3	chr6:30710580..30713200-chr6:30873655..30875872,3	K562	blood:
4	chr6:30856696..30860777-chr6:30873663..30877180,4	K562	blood:
5	chr6:30849765..30853673-chr6:30873635..30876591,7	MCF-7	breast:
6	chr6:30850512..30853465-chr6:30873614..30877587,4	K562	blood:
7	chr6:30848838..30854096-chr6:30874501..30878794,8	MCF-7	breast:
8	chr6:30862733..30867301-chr6:30870947..30877299,8	K562	blood:
9	chr6:30853891..30856446-chr6:30875282..30877202,3	K562	blood:
10	chr6:30521879..30524871-chr6:30874411..30877273,3	K562	blood:
11	chr6:30861872..30865234-chr6:30873633..30877003,5	MCF-7	breast:
12	chr6:30859072..30860642-chr6:30873697..30876648,2	MCF-7	breast:
13	chr6:30874031..30876407-chr6:30886352..30887855,2	MCF-7	breast:

No data

Variant related genes	Relation type
VARS2	TF binding region
GTF2H4	TF binding region
ENSG00000137331	Chromatin interaction
ENSG00000264594	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000204580	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1049622	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1049628	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1052693	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10947111	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12206075	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13215246	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13215409	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1419693	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074508	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2074509	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074510	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074512	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2229933	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2239517	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2239518	0.80[AMR][1000 genomes]
rs2284175	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2284176	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2285319	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2524236	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2894055	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3213644	0.80[AMR][1000 genomes]
rs3218802	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3218803	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3218806	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3218814	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3218815	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3757339	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3869085	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3869086	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3909130	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41288539	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4618569	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4711247	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6457282	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6901464	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6924600	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7743661	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7756521	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7761589	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8408	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs916920	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9295929	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9295931	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9295932	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9295933	0.80[AMR][1000 genomes]
rs9295934	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9357102	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9366761	0.80[AMR][1000 genomes]
rs9378191	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9380200	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9380201	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9394021	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9461638	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9468842	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9468844	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9468845	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9468846	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9468847	0.81[ASN][1000 genomes]
rs9501032	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9501342	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv525438	chr6:30864829-30933975	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30854600-30875400	Weak transcription	Psoas Muscle	Psoas
2	chr6:30854800-30875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:30858400-30875400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:30858400-30875400	Weak transcription	Right Atrium	heart
5	chr6:30858400-30876000	Weak transcription	Fetal Heart	heart
6	chr6:30863600-30875400	Weak transcription	Osteobl	bone
7	chr6:30865400-30875400	Weak transcription	HSMM	muscle
8	chr6:30865800-30875400	Weak transcription	NH-A	brain
9	chr6:30866600-30876000	Weak transcription	Small Intestine	intestine
10	chr6:30867200-30875400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:30867200-30875400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:30867200-30875400	Weak transcription	NHLF	lung
13	chr6:30867400-30875400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:30867400-30875400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:30867400-30875400	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:30867400-30875400	Weak transcription	Right Ventricle	heart
17	chr6:30867600-30875400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:30867600-30875400	Weak transcription	Adipose Nuclei	Adipose
19	chr6:30867600-30875400	Weak transcription	Aorta	Aorta
20	chr6:30867600-30875400	Weak transcription	Brain Angular Gyrus	brain
21	chr6:30867600-30875400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:30867600-30875400	Weak transcription	Brain Substantia Nigra	brain
23	chr6:30867600-30875400	Weak transcription	Fetal Lung	lung
24	chr6:30867600-30875400	Weak transcription	Left Ventricle	heart
25	chr6:30867800-30875400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:30867800-30875400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:30867800-30875400	Weak transcription	Colonic Mucosa	Colon
28	chr6:30867800-30875400	Weak transcription	Lung	lung
29	chr6:30867800-30875400	Weak transcription	Ovary	ovary
30	chr6:30867800-30875600	Weak transcription	Spleen	Spleen
31	chr6:30867800-30876000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:30868000-30875400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:30868200-30875400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:30868200-30875400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:30868200-30875400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:30868200-30875400	Weak transcription	Esophagus	oesophagus
37	chr6:30868200-30875400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:30868200-30875600	Weak transcription	Gastric	stomach
39	chr6:30868200-30875600	Weak transcription	HSMMtube	muscle
40	chr6:30868400-30875400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:30868600-30875400	Weak transcription	Fetal Brain Female	brain
42	chr6:30868600-30875400	Weak transcription	Fetal Stomach	stomach
43	chr6:30868800-30875400	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:30869000-30875400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:30869000-30875400	Weak transcription	HMEC	breast
46	chr6:30869200-30875400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:30869200-30875400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:30870800-30875400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:30870800-30875400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:30871800-30875600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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