Variant report

Variant	rs577977543
Chromosome Location	chr6:149772166-149772167
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TFAP2C	chr6:149771572-149773122	Hela-S3	cervix:	n/a	n/a
2	SMARCB1	chr6:149771406-149773213	Hela-S3	cervix:	n/a	n/a
3	BACH1	chr6:149771870-149772280	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr6:149771661-149772189	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:149770891-149772320	GM12878	blood:	n/a	n/a
6	MAX	chr6:149771673-149772189	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr6:149771598-149772236	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr6:149771691-149772179	H1-hESC	embryonic stem cell:	n/a	n/a
9	SMC3	chr6:149772110-149772264	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr6:149771989-149773037	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr6:149772064-149772251	GM12878	blood:	n/a	n/a
12	ZNF143	chr6:149772104-149772292	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:149772150-149772200	Jurkat	blood:	n/a
2	chr6:149772150-149772200	HCF	heart:	n/a
3	chr6:149772150-149772200	HepG2	liver:	n/a
4	chr6:149772150-149772200	ovcar-3	ovarian:	n/a
5	chr6:149772150-149772200	PANC-1	pancreas:	n/a
6	chr6:149772150-149772200	MCF10A-Er-Src	breast:	n/a
7	chr6:149772150-149772200	T-47D	breast:	n/a
8	chr6:149772150-149772200	K562	blood:	n/a
9	chr6:149772150-149772200	SK-N-MC	brain:	n/a
10	chr6:149772150-149772200	PrEC	prostate:	n/a
11	chr6:149772150-149772200	AG09309	skin:	n/a
12	chr6:149772150-149772200	HPAEpiC	pulmonary alveolar:	n/a
13	chr6:149772150-149772200	Hepatocyte	liver:	n/a
14	chr6:149772150-149772200	A549	lung:	n/a
15	chr6:149772150-149772200	NH-A	brain:	n/a
16	chr6:149772150-149772200	HCPEpiC	choroid plexus:	n/a
17	chr6:149772150-149772200	Caco-2	colon:	n/a
18	chr6:149772150-149772200	ProgFib	skin:	n/a
19	chr6:149772150-149772200	HMEC	breast:	n/a
20	chr6:149772150-149772200	AG10803	skin:	n/a
21	chr6:149772150-149772200	H1-hESC	embryonic stem cell:	embryo
22	chr6:149772150-149772200	GM19239	blood:	n/a
23	chr6:149772150-149772200	HUVEC	blood vessel:	n/a
24	chr6:149772150-149772200	HRCEpiC	kidney:	n/a
25	chr6:149772150-149772200	HRPEpiC	eye:	n/a
26	chr6:149772150-149772200	HRE	kidney:	n/a
27	chr6:149772150-149772200	BJ	skin:	n/a
28	chr6:149772150-149772200	GM12891	blood:	n/a
29	chr6:149772150-149772200	AoSMC	blood vessel:	n/a
30	chr6:149772150-149772200	SK-N-SH_RA	brain:	n/a
31	chr6:149772150-149772200	NHBE	bronchial:	n/a
32	chr6:149772150-149772200	MCF-7	breast:	n/a
33	chr6:149772150-149772200	HCM	heart:	n/a
34	chr6:149772150-149772200	SK-N-SH	brain:	n/a
35	chr6:149772150-149772200	PFSK-1	brain:	n/a
36	chr6:149772150-149772200	HEK293	kidney:	embryo
37	chr6:149772150-149772200	NB4	blood:	n/a
38	chr6:149772150-149772200	SAEC	small airway:	n/a
39	chr6:149772150-149772200	BE2_C	brain:	n/a
40	chr6:149772150-149772200	GM12878	blood:	n/a
41	chr6:149772150-149772200	AG09319	gingival:	n/a
42	chr6:149772150-149772200	NT2-D1	testis:	n/a
43	chr6:149772150-149772200	AG04449	skin:	fetal
44	chr6:149772150-149772200	HEEpiC	esophagus:	n/a
45	chr6:149772150-149772200	RPTEC	kidney:	n/a
46	chr6:149772150-149772200	IMR90	lung:	fetal
47	chr6:149772150-149772200	ECC-1	luminal epithelium:	n/a
48	chr6:149772150-149772200	CMK	blood:	n/a
49	chr6:149772150-149772200	HIPEpiC	eye:	n/a
50	chr6:149772150-149772200	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149769726..149773853-chr6:149775332..149778151,3	K562	blood:

No data

Variant related genes	Relation type
ZC3H12D	TF binding region
ZC3H12D	CpG island
ENSG00000178199	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv5533	chr6:149748047-149793072	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv464076	chr6:149755695-149798835	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv604846	chr6:149755695-149798835	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3355637	chr6:149769659-149774457	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3374188	chr6:149770709-149773207	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3358166	chr6:149771284-149774132	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149766600-149773000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:149767400-149772800	Weak transcription	HepG2	liver
3	chr6:149768400-149779400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:149769600-149782800	Strong transcription	Primary B cells from peripheral blood	blood
5	chr6:149769600-149787200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:149769800-149779800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr6:149770000-149773000	Weak transcription	Primary B cells from cord blood	blood
8	chr6:149770000-149779600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:149770000-149785200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:149771000-149773400	Enhancers	Fetal Heart	heart
11	chr6:149771400-149772200	ZNF genes & repeats	Spleen	Spleen
12	chr6:149771400-149773200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr6:149771400-149773200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr6:149771400-149773400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr6:149771400-149773400	Active TSS	Rectal Smooth Muscle	rectum
16	chr6:149771600-149772200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:149771600-149772200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr6:149771600-149772200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:149771600-149772200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
20	chr6:149771600-149772200	Flanking Active TSS	Liver	Liver
21	chr6:149771600-149772200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
22	chr6:149771600-149772200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr6:149771600-149772200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr6:149771600-149772400	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr6:149771600-149772600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:149771600-149772800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:149771600-149772800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:149771600-149772800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:149771600-149772800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
30	chr6:149771600-149772800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr6:149771600-149772800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr6:149771600-149773000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr6:149771600-149773000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:149771600-149773000	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr6:149771600-149773200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:149771600-149773200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr6:149771600-149773200	Flanking Active TSS	Colonic Mucosa	Colon
38	chr6:149771600-149773200	Bivalent Enhancer	Fetal Brain Male	brain
39	chr6:149771600-149773400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr6:149771600-149778000	Weak transcription	GM12878-XiMat	blood
41	chr6:149771800-149772200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
42	chr6:149771800-149772200	Flanking Active TSS	Esophagus	oesophagus
43	chr6:149771800-149772200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr6:149771800-149772200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr6:149771800-149772200	Flanking Active TSS	Gastric	stomach
46	chr6:149771800-149772200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
47	chr6:149771800-149772200	Flanking Bivalent TSS/Enh	Osteobl	bone
48	chr6:149771800-149772400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:149771800-149772400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:149771800-149772400	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood

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