Variant report

Variant	rs376062771
Chromosome Location	chr6:133137718-133137719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:133133973-133142719	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:133136894-133138284	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr6:133134162-133138350	GM12892	blood:	n/a	n/a
4	POLR2A	chr6:133133509-133142958	HepG2	liver:	n/a	n/a
5	YY1	chr6:133137605-133137971	HepG2	liver:	n/a	chr6:133137826-133137836
6	POLR2A	chr6:133136999-133137974	Hela-S3	cervix:	n/a	n/a
7	MYC	chr6:133133521-133138056	K562	blood:	n/a	chr6:133134081-133134091 chr6:133135767-133135777
8	POLR2A	chr6:133134007-133138262	GM15510	blood:	n/a	n/a
9	POLR2A	chr6:133134121-133142902	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr6:133135219-133144621	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:133135075-133142824	K562	blood:	n/a	n/a
12	POLR2A	chr6:133134120-133142624	GM18505	blood:	n/a	n/a
13	TAF7	chr6:133134418-133138128	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:133133442-133144695	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr6:133133522-133142994	GM12891	blood:	n/a	n/a
16	CHD2	chr6:133137694-133142877	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr6:133135035-133138163	U87	brain:	n/a	n/a
18	POLR2A	chr6:133137306-133137883	GM12891	blood:	n/a	n/a
19	POLR2A	chr6:133137328-133142813	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:133133648-133142538	K562	blood:	n/a	n/a
21	POLR2A	chr6:133137026-133138035	K562	blood:	n/a	n/a
22	POLR2A	chr6:133136985-133138228	GM12891	blood:	n/a	n/a
23	MXI1	chr6:133137566-133138034	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:133134946-133142915	U87	brain:	n/a	n/a
25	POLR2A	chr6:133134298-133142858	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr6:133133488-133142945	PBDE	blood:	n/a	n/a
27	POLR2A	chr6:133133410-133142612	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:133133546-133143142	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr6:133134132-133137981	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:133137037-133138286	GM12891	blood:	n/a	n/a
31	POLR2A	chr6:133136910-133143141	MCF-7	breast:	n/a	n/a
32	POLR2A	chr6:133137198-133138298	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr6:133133915-133137993	GM19099	blood:	n/a	n/a
34	POLR2A	chr6:133133528-133143521	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr6:133133461-133143479	K562	blood:	n/a	n/a
36	POLR2A	chr6:133133600-133142470	K562	blood:	n/a	n/a
37	POLR2A	chr6:133135013-133142637	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr6:133136821-133141459	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:133137387-133137836	HepG2	liver:	n/a	n/a
40	POLR2A	chr6:133137115-133142750	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr6:133137029-133138163	A549	lung:	n/a	n/a
42	CHD1	chr6:133133718-133139140	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF2	chr6:133137238-133138580	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr6:133133566-133142521	K562	blood:	n/a	n/a
45	POLR2A	chr6:133137301-133138225	GM12891	blood:	n/a	n/a
46	HEY1	chr6:133137025-133141401	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:133134688-133138413	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr6:133133565-133142938	GM12878	blood:	n/a	n/a
49	MAFF	chr6:133137426-133139988	K562	blood:	n/a	n/a
50	POLR2A	chr6:133134233-133138203	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:133054032..133057251-chr6:133136548..133139421,3	K562	blood:
2	chr17:40214097..40215598-chr6:133136759..133139699,2	K562	blood:
3	chr6:133049609..133052376-chr6:133137041..133138744,2	MCF-7	breast:
4	chr6:132855902..132859597-chr6:133135974..133139810,3	K562	blood:
5	chr6:133118544..133124606-chr6:133132137..133138834,13	MCF-7	breast:
6	chr6:133117688..133126502-chr6:133133829..133139054,19	MCF-7	breast:

No data

Variant related genes	Relation type
SNORD100	TF binding region
SNORA33	TF binding region
ENSG00000146409	Chromatin interaction
ENSG00000187595	Chromatin interaction
ENSG00000237110	Chromatin interaction
ENSG00000093134	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	esv1806734	chr6:133125643-133168582	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
5	nsv970167	chr6:133137525-133138525	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133134000-133137800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:133134000-133138400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:133134600-133138400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:133135800-133138000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
5	chr6:133135800-133138400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
6	chr6:133136000-133137800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:133136000-133138000	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
8	chr6:133136000-133138000	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
9	chr6:133136000-133138000	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
10	chr6:133136000-133138000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
11	chr6:133136000-133138000	Transcr. at gene 5' and 3'	Fetal Lung	lung
12	chr6:133136000-133138000	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
13	chr6:133136000-133138200	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr6:133136000-133138200	Transcr. at gene 5' and 3'	NHEK	skin
15	chr6:133136000-133138200	Transcr. at gene 5' and 3'	Osteobl	bone
16	chr6:133136000-133138400	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
17	chr6:133136000-133138400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
18	chr6:133136000-133138400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:133136000-133138400	Transcr. at gene 5' and 3'	HMEC	breast
20	chr6:133136000-133138600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
21	chr6:133136000-133139000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
22	chr6:133136000-133139200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
23	chr6:133136000-133139200	Transcr. at gene 5' and 3'	K562	blood
24	chr6:133136000-133139800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:133136200-133137800	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:133136200-133137800	Transcr. at gene 5' and 3'	HSMM	muscle
27	chr6:133136200-133138000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:133136200-133138000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
29	chr6:133136200-133138200	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:133136200-133138200	Transcr. at gene 5' and 3'	Hela-S3	cervix
31	chr6:133136200-133138400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:133136200-133138400	Transcr. at gene 5' and 3'	NHLF	lung
33	chr6:133136200-133138600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:133136200-133138600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:133136200-133138600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
36	chr6:133136200-133139000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:133136200-133139000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
38	chr6:133136200-133139400	Transcr. at gene 5' and 3'	A549	lung
39	chr6:133136200-133140600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
40	chr6:133136400-133138000	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
41	chr6:133136400-133138200	Transcr. at gene 5' and 3'	NH-A	brain
42	chr6:133136400-133138400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:133136400-133138400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
44	chr6:133136600-133138400	Transcr. at gene 5' and 3'	HepG2	liver
45	chr6:133136600-133139000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:133136800-133137800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:133136800-133137800	Genic enhancers	Primary monocytes fromperipheralblood	blood
48	chr6:133136800-133137800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:133136800-133138000	Genic enhancers	Primary B cells from peripheral blood	blood
50	chr6:133136800-133138000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain

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