Variant report

Variant	rs656694
Chromosome Location	chr6:4133030-4133031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:4132930-4133202	K562	blood:	n/a	chr6:4133054-4133065
2	POLR2A	chr6:4133007-4133059	HepG2	liver:	n/a	n/a
3	CEBPB	chr6:4132923-4133199	HepG2	liver:	n/a	chr6:4133054-4133065

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:4133029-4133079	LNCaP	prostate:	n/a
2	chr6:4133029-4133079	AoSMC	blood vessel:	n/a
3	chr6:4133029-4133079	SKMC	muscle:	n/a
4	chr6:4133029-4133079	NH-A	brain:	n/a
5	chr6:4133029-4133079	IMR90	lung:	fetal
6	chr6:4133029-4133079	H1-hESC	embryonic stem cell:	embryo
7	chr6:4133029-4133079	PrEC	prostate:	n/a
8	chr6:4133029-4133079	AG09309	skin:	n/a
9	chr6:4133029-4133079	SK-N-MC	brain:	n/a
10	chr6:4133029-4133079	HepG2	liver:	n/a
11	chr6:4133029-4133079	AG04450	lung:	fetal
12	chr6:4133029-4133079	HCT-116	colon:	n/a
13	chr6:4133029-4133079	MCF-7	breast:	n/a
14	chr6:4133029-4133079	SAEC	small airway:	n/a
15	chr6:4133029-4133079	ProgFib	skin:	n/a
16	chr6:4133029-4133079	PFSK-1	brain:	n/a
17	chr6:4133029-4133079	Caco-2	colon:	n/a
18	chr6:4133029-4133079	AG10803	skin:	n/a
19	chr6:4133029-4133079	RPTEC	kidney:	n/a
20	chr6:4133029-4133079	GM12891	blood:	n/a
21	chr6:4133029-4133079	HPAEpiC	pulmonary alveolar:	n/a
22	chr6:4133029-4133079	CMK	blood:	n/a
23	chr6:4133029-4133079	U87	brain:	n/a
24	chr6:4133029-4133079	HCPEpiC	choroid plexus:	n/a
25	chr6:4133029-4133079	PANC-1	pancreas:	n/a
26	chr6:4133029-4133079	HMEC	breast:	n/a
27	chr6:4133029-4133079	Jurkat	blood:	n/a
28	chr6:4133029-4133079	SK-N-SH	brain:	n/a
29	chr6:4133029-4133079	HRE	kidney:	n/a
30	chr6:4133029-4133079	GM12878	blood:	n/a
31	chr6:4133029-4133079	HNPCEpiC	eye:	n/a
32	chr6:4133029-4133079	GM12892	blood:	n/a
33	chr6:4133029-4133079	K562	blood:	n/a
34	chr6:4133029-4133079	GM19239	blood:	n/a
35	chr6:4133029-4133079	NT2-D1	testis:	n/a
36	chr6:4133029-4133079	NB4	blood:	n/a
37	chr6:4133029-4133079	NHBE	bronchial:	n/a
38	chr6:4133029-4133079	AG04449	skin:	fetal
39	chr6:4133029-4133079	HAEpiC	amniotic membrane:	n/a
40	chr6:4133029-4133079	BE2_C	brain:	n/a
41	chr6:4133029-4133079	ovcar-3	ovarian:	n/a
42	chr6:4133029-4133079	HRPEpiC	eye:	n/a
43	chr6:4133029-4133079	T-47D	breast:	n/a
44	chr6:4133029-4133079	Hepatocyte	liver:	n/a
45	chr6:4133029-4133079	HEEpiC	esophagus:	n/a
46	chr6:4133029-4133079	BJ	skin:	n/a
47	chr6:4133029-4133079	HUVEC	blood vessel:	n/a
48	chr6:4133029-4133079	A549	lung:	n/a
49	chr6:4133029-4133079	ECC-1	luminal epithelium:	n/a
50	chr6:4133029-4133079	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:4130992..4133785-chr6:4183388..4185664,2	K562	blood:
2	chr6:4016355..4024618-chr6:4131840..4138381,21	K562	blood:
3	chr6:4017302..4025509-chr6:4131840..4138381,19	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf201-5	chr6:4131253-4134818	NONHSAT107321

No data

Variant related genes	Relation type
ENSG00000254821	TF binding region
ENSG00000234817	TF binding region
ENSG00000254821	CpG island
ENSG00000234817	CpG island
ENSG00000112739	Chromatin interaction
ENSG00000230648	Chromatin interaction
ENSG00000272248	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1204950	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs582301	0.94[AMR][1000 genomes]
rs605301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608917	1.00[ASN][1000 genomes]
rs611677	0.95[ASN][1000 genomes]
rs622859	1.00[ASN][1000 genomes]
rs625577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627902	1.00[ASN][1000 genomes]
rs629533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs853412	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs853421	1.00[ASN][1000 genomes]
rs853422	1.00[ASN][1000 genomes]
rs945251	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
5	esv2422231	chr6:4100333-4233454	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv2422457	chr6:4100333-4377396	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr6:4111000-4134200	Weak transcription	Stomach Mucosa	stomach
2	chr6:4113800-4134600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:4114200-4133400	Strong transcription	Stomach Smooth Muscle	stomach
4	chr6:4114600-4133600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:4114800-4133400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr6:4115200-4133800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:4115400-4133200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:4115400-4133400	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:4115400-4133800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr6:4121600-4133200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr6:4122400-4133800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:4123800-4133400	Strong transcription	Ovary	ovary
13	chr6:4124200-4133200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:4125200-4133400	Strong transcription	Fetal Stomach	stomach
15	chr6:4126800-4133200	Strong transcription	Adipose Nuclei	Adipose
16	chr6:4126800-4133400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:4127000-4133600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:4127000-4134200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:4127000-4134200	Weak transcription	Aorta	Aorta
20	chr6:4127200-4134200	Weak transcription	HMEC	breast
21	chr6:4127400-4133800	Strong transcription	Colon Smooth Muscle	Colon
22	chr6:4127800-4133800	Strong transcription	A549	lung
23	chr6:4128000-4133800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:4128600-4133400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:4129400-4133200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:4129400-4134400	Weak transcription	Lung	lung
27	chr6:4129800-4133400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:4130000-4133200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:4130200-4133600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:4130400-4133800	Genic enhancers	HepG2	liver
31	chr6:4130600-4133200	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr6:4130600-4133800	Weak transcription	Fetal Heart	heart
33	chr6:4130800-4133800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr6:4131000-4133600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:4131000-4133800	Weak transcription	Fetal Brain Female	brain
36	chr6:4131000-4134200	Weak transcription	HSMMtube	muscle
37	chr6:4131200-4133400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:4131200-4133400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:4131200-4133600	Weak transcription	Fetal Brain Male	brain
40	chr6:4131200-4133800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:4131200-4133800	Weak transcription	Brain Angular Gyrus	brain
42	chr6:4131200-4133800	Weak transcription	Brain Substantia Nigra	brain
43	chr6:4131200-4134000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:4131200-4134000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:4131200-4134200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr6:4131200-4134200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:4131200-4134200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:4131200-4134400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr6:4131400-4133200	Weak transcription	Brain Hippocampus Middle	brain
50	chr6:4131400-4133800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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