Variant report

Variant	rs76048013
Chromosome Location	chr6:44223124-44223125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:213)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:213 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:44220423-44223432	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:44213387-44225291	U87	brain:	n/a	n/a
3	MAZ	chr6:44223076-44223187	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:44221717-44223550	HL-60	blood:	n/a	n/a
5	PML	chr6:44220368-44226860	GM12878	blood:	n/a	chr6:44223502-44223510
6	POLR2A	chr6:44214162-44225788	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr6:44213384-44225291	U87	brain:	n/a	n/a
8	CEBPD	chr6:44221719-44223966	K562	blood:	n/a	n/a
9	BHLHE40	chr6:44222008-44223128	GM12878	blood:	n/a	n/a
10	EBF1	chr6:44222967-44223315	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:44220290-44224065	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:44214205-44227205	GM12891	blood:	n/a	n/a
13	POLR2A	chr6:44221976-44223816	PBDE	blood:	n/a	n/a
14	PBX3	chr6:44221746-44223514	A549	lung:	n/a	n/a
15	ZNF143	chr6:44222908-44223533	K562	blood:	n/a	n/a
16	POLR2A	chr6:44222264-44223440	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr6:44219291-44223516	K562	blood:	n/a	n/a
18	POLR2A	chr6:44221567-44223422	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr6:44218235-44226207	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr6:44220531-44227269	GM19099	blood:	n/a	n/a
21	EP300	chr6:44222845-44223326	HepG2	liver:	n/a	n/a
22	PML	chr6:44220349-44223383	K562	blood:	n/a	n/a
23	BCLAF1	chr6:44221570-44223190	K562	blood:	n/a	n/a
24	JUND	chr6:44221876-44223460	A549	lung:	n/a	n/a
25	POLR2A	chr6:44213452-44233528	GM12892	blood:	n/a	n/a
26	POLR2A	chr6:44220381-44226065	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr6:44213372-44233644	GM12891	blood:	n/a	n/a
28	SP4	chr6:44221923-44223254	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr6:44221928-44223227	Hela-S3	cervix:	n/a	n/a
30	POU2F2	chr6:44221834-44223417	GM12891	blood:	n/a	n/a
31	BCL3	chr6:44221565-44223530	K562	blood:	n/a	n/a
32	POLR2A	chr6:44220426-44224057	HCT-116	colon:	n/a	n/a
33	JUN	chr6:44221871-44226237	K562	blood:	n/a	n/a
34	POLR2A	chr6:44213396-44226181	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr6:44221904-44223507	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:44213416-44233519	GM12878	blood:	n/a	n/a
37	PAX5	chr6:44221878-44223441	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:44221842-44223404	HCT-116	colon:	n/a	n/a
39	POLR2A	chr6:44212831-44226077	HepG2	liver:	n/a	n/a
40	POLR2A	chr6:44219366-44224156	PANC-1	pancreas:	n/a	n/a
41	USF2	chr6:44222700-44223262	HepG2	liver:	n/a	n/a
42	POLR2A	chr6:44213292-44226484	K562	blood:	n/a	n/a
43	POLR2A	chr6:44213785-44233471	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:44220582-44224369	MCF10A-Er-Src	breast:	n/a	n/a
45	MAZ	chr6:44222845-44223212	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr6:44222164-44223446	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr6:44213479-44233557	GM12892	blood:	n/a	n/a
48	POLR2A	chr6:44213515-44224070	PFSK-1	brain:	n/a	n/a
49	JUND	chr6:44221874-44223322	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr6:44220491-44224250	HUVEC	blood vessel:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44107297..44110338-chr6:44222390..44225778,3	K562	blood:
2	chr6:44189603..44194222-chr6:44219459..44225598,7	MCF-7	breast:
3	chr11:62607517..62610391-chr6:44222341..44224754,2	K562	blood:
4	chr6:43593647..43595263-chr6:44222300..44225086,2	K562	blood:
5	chr6:44155358..44157152-chr6:44222734..44224483,2	MCF-7	breast:
6	chr6:44107494..44110338-chr6:44222390..44224695,3	K562	blood:
7	chr6:26025174..26027343-chr6:44222131..44224578,2	K562	blood:
8	chr6:44088008..44090239-chr6:44222816..44224474,2	MCF-7	breast:
9	chr6:44222894..44225212-chr7:135347349..135349019,2	K562	blood:
10	chr6:44222007..44224336-chrX:118601679..118603705,2	K562	blood:
11	chr1:181056458..181058688-chr6:44221777..44223533,2	MCF-7	breast:
12	chr6:44194780..44196882-chr6:44222691..44225125,2	MCF-7	breast:
13	chr6:44099546..44105774-chr6:44219938..44225862,7	K562	blood:
14	chr6:44222818..44225265-chr6:44280838..44282918,2	MCF-7	breast:
15	chr6:44222000..44226440-chr6:44278583..44281839,6	K562	blood:

No data

Variant related genes	Relation type
MIR4647	TF binding region
ENSG00000162783	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000005022	Chromatin interaction
ENSG00000224281	Chromatin interaction
ENSG00000112759	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv885855	chr6:44223010-44231479	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
12	nsv885856	chr6:44223010-44232920	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
13	nsv885857	chr6:44223010-44250165	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 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	chr6:44216200-44223800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
2	chr6:44216600-44223200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:44216600-44223400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr6:44216600-44223400	Strong transcription	Fetal Kidney	kidney
5	chr6:44216800-44223200	Strong transcription	Aorta	Aorta
6	chr6:44216800-44223400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:44217000-44223200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:44217000-44223200	Strong transcription	Esophagus	oesophagus
9	chr6:44217000-44223200	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr6:44217200-44223200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:44217200-44223200	Strong transcription	Colon Smooth Muscle	Colon
12	chr6:44217200-44223400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:44217200-44223600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:44217200-44223600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr6:44217200-44223800	Strong transcription	Placenta	Placenta
16	chr6:44217200-44223800	Strong transcription	Fetal Stomach	stomach
17	chr6:44217200-44223800	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr6:44217400-44223200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:44217400-44223200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:44217400-44223200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:44217400-44223200	Strong transcription	Primary T cells from cord blood	blood
22	chr6:44217400-44223200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:44217400-44223200	Strong transcription	NHDF-Ad	bronchial
24	chr6:44217400-44223400	Strong transcription	Fetal Lung	lung
25	chr6:44217400-44223800	Strong transcription	Fetal Intestine Large	intestine
26	chr6:44217600-44223200	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr6:44217600-44223200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:44217600-44223200	Strong transcription	HSMMtube	muscle
29	chr6:44217600-44223400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:44217600-44223400	Strong transcription	Lung	lung
31	chr6:44217600-44223400	Strong transcription	Ovary	ovary
32	chr6:44217600-44223400	Strong transcription	Rectal Smooth Muscle	rectum
33	chr6:44217600-44223600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:44217600-44223600	Strong transcription	Adipose Nuclei	Adipose
35	chr6:44217600-44223600	Strong transcription	HSMM	muscle
36	chr6:44217600-44223800	Strong transcription	Colonic Mucosa	Colon
37	chr6:44217600-44223800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr6:44217800-44223200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:44217800-44223200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:44217800-44223600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr6:44218000-44223200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:44218000-44223400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:44218000-44223600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:44218400-44223400	Strong transcription	Osteobl	bone
45	chr6:44218400-44223600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:44218400-44223600	Genic enhancers	Dnd41	blood
47	chr6:44218600-44223200	Strong transcription	Liver	Liver
48	chr6:44218800-44223200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:44218800-44223200	Genic enhancers	K562	blood
50	chr6:44218800-44223400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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