Variant report

Variant	rs556433968
Chromosome Location	chr6:132270764-132270765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:132269199-132272798	H1-hESC	embryonic stem cell:	n/a	n/a
2	SMC3	chr6:132270722-132271281	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr6:132270746-132271081	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr6:132270735-132271278	Hela-S3	cervix:	n/a	n/a
5	SIN3AK20	chr6:132270289-132270833	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr6:132269231-132272053	U87	brain:	n/a	n/a
7	CHD2	chr6:132267213-132272030	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr6:132270746-132272036	H1-hESC	embryonic stem cell:	n/a	n/a
9	NFIC	chr6:132270746-132271890	HepG2	liver:	n/a	n/a
10	NR2F2	chr6:132269786-132273124	HepG2	liver:	n/a	n/a
11	GATA3	chr6:132269693-132272021	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr6:132267033-132272723	HepG2	liver:	n/a	n/a
13	PBX3	chr6:132270683-132272961	SK-N-SH	brain:	n/a	n/a
14	HEY1	chr6:132268004-132272823	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:132266659-132272679	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:132269776-132272855	PFSK-1	brain:	n/a	n/a
17	TAF7	chr6:132267350-132272864	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:132269397-132272146	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr6:132267640-132272713	MCF10A-Er-Src	breast:	n/a	n/a
20	JUND	chr6:132267546-132272205	SK-N-SH	brain:	n/a	n/a
21	MAX	chr6:132269563-132272788	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:132267577-132272738	HepG2	liver:	n/a	n/a
23	HEY1	chr6:132267607-132272711	HepG2	liver:	n/a	n/a
24	SMC3	chr6:132269923-132271921	HepG2	liver:	n/a	chr6:132271843-132271853 chr6:132271785-132271795 chr6:132271781-132271795
25	STAT3	chr6:132270744-132271130	Hela-S3	cervix:	n/a	chr6:132270937-132270945
26	POLR2A	chr6:132266835-132272625	A549	lung:	n/a	n/a
27	MAZ	chr6:132270364-132271978	HepG2	liver:	n/a	n/a
28	RCOR1	chr6:132270713-132271277	Hela-S3	cervix:	n/a	n/a
29	PBX3	chr6:132269763-132272960	SK-N-SH	brain:	n/a	n/a
30	REST	chr6:132270747-132272137	HepG2	liver:	n/a	chr6:132271887-132271900
31	POLR2A	chr6:132267141-132272853	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr6:132266399-132272824	HUVEC	blood vessel:	n/a	n/a
33	NRF1	chr6:132270609-132270808	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr6:132270739-132272131	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr6:132267721-132272732	HepG2	liver:	n/a	n/a
36	POLR2A	chr6:132269785-132272726	SK-N-SH	brain:	n/a	n/a
37	CHD1	chr6:132266417-132273369	IMR90	lung:	n/a	n/a
38	MAX	chr6:132270418-132271443	Hela-S3	cervix:	n/a	n/a
39	TEAD4	chr6:132269423-132271784	HepG2	liver:	n/a	n/a
40	POLR2A	chr6:132269233-132272940	SK-N-SH	brain:	n/a	n/a
41	GTF2F1	chr6:132270451-132270959	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr6:132267654-132272716	HepG2	liver:	n/a	n/a
43	MYBL2	chr6:132270195-132272873	HepG2	liver:	n/a	n/a
44	CHD1	chr6:132269408-132273163	H1-hESC	embryonic stem cell:	n/a	n/a
45	NFIC	chr6:132267809-132271993	HepG2	liver:	n/a	n/a
46	MBD4	chr6:132267547-132272994	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:132269256-132272815	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr6:132267516-132272895	HUVEC	blood vessel:	n/a	n/a
49	SIN3AK20	chr6:132270473-132270788	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr6:132267571-132272831	ProgFib	skin:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132454814-132459405	GM12878	blood:
2	chr6:132269202..132270908-chr6:132273565..132275106,2	K562	blood:
3	6:132269655-132282174..6:132434977-132438109	Hela-S3	cervix:
4	chr6:132270712..132271805-chr6:132538854..132539933,3	MCF-7	breast:
5	6:132269655-132282174..6:132402790-132406656	H1-hESC	embryonic stem cell:	embryo
6	6:132269655-132282174..6:132480387-132483283	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000227220	TF binding region
ENSG00000265669	Chromatin interaction
ENSG00000236166	Chromatin interaction
ENSG00000228495	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv3398326	chr6:132269959-132274257	Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132259200-132271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:132259400-132271000	Weak transcription	Liver	Liver
3	chr6:132260000-132271000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:132268200-132271800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
5	chr6:132268400-132271800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:132269000-132271800	Transcr. at gene 5' and 3'	NH-A	brain
7	chr6:132269400-132271000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:132269400-132271000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:132269400-132271000	Active TSS	Duodenum Mucosa	Duodenum
10	chr6:132269400-132271000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr6:132269400-132271200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:132269400-132271400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:132269400-132271400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
14	chr6:132269400-132271400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
15	chr6:132269400-132271400	Transcr. at gene 5' and 3'	A549	lung
16	chr6:132269400-132271600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
17	chr6:132269400-132271600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:132269400-132271800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:132269400-132271800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
20	chr6:132269400-132271800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:132269400-132271800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
22	chr6:132269400-132272000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:132269400-132272000	Enhancers	Hela-S3	cervix
24	chr6:132269400-132273000	Active TSS	Ovary	ovary
25	chr6:132269600-132271200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
26	chr6:132269600-132271400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr6:132269600-132271600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
28	chr6:132269600-132271600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
29	chr6:132269800-132270800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
30	chr6:132269800-132271000	Active TSS	Fetal Muscle Trunk	muscle
31	chr6:132269800-132271000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
32	chr6:132269800-132271200	Active TSS	Brain Angular Gyrus	brain
33	chr6:132269800-132271200	Active TSS	Pancreas	Pancrea
34	chr6:132269800-132271400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:132269800-132271400	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
36	chr6:132269800-132271600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:132269800-132271600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:132269800-132271600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
39	chr6:132269800-132271800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
40	chr6:132269800-132271800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
41	chr6:132269800-132271800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr6:132269800-132271800	Flanking Active TSS	Fetal Heart	heart
43	chr6:132269800-132271800	Transcr. at gene 5' and 3'	HepG2	liver
44	chr6:132269800-132271800	Transcr. at gene 5' and 3'	NHLF	lung
45	chr6:132269800-132272800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr6:132269800-132272800	Active TSS	Psoas Muscle	Psoas
47	chr6:132270000-132270800	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
48	chr6:132270000-132270800	Active TSS	Stomach Mucosa	stomach
49	chr6:132270000-132271000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:132270000-132271000	Active TSS	Brain Substantia Nigra	brain

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