Variant report

Variant	rs376061373
Chromosome Location	chr6:44223613-44223614
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:118)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:118 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:44213387-44225291	U87	brain:	n/a	n/a
2	PML	chr6:44220368-44226860	GM12878	blood:	n/a	chr6:44223502-44223510
3	POLR2A	chr6:44214162-44225788	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr6:44213384-44225291	U87	brain:	n/a	n/a
5	CEBPD	chr6:44221719-44223966	K562	blood:	n/a	n/a
6	POLR2A	chr6:44220290-44224065	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr6:44214205-44227205	GM12891	blood:	n/a	n/a
8	POLR2A	chr6:44221976-44223816	PBDE	blood:	n/a	n/a
9	RUNX3	chr6:44223554-44226547	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:44218235-44226207	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr6:44220531-44227269	GM19099	blood:	n/a	n/a
12	POLR2A	chr6:44213452-44233528	GM12892	blood:	n/a	n/a
13	POLR2A	chr6:44220381-44226065	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr6:44213372-44233644	GM12891	blood:	n/a	n/a
15	POLR2A	chr6:44220426-44224057	HCT-116	colon:	n/a	n/a
16	JUN	chr6:44221871-44226237	K562	blood:	n/a	n/a
17	POLR2A	chr6:44213396-44226181	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:44213416-44233519	GM12878	blood:	n/a	n/a
19	RCOR1	chr6:44223179-44223824	K562	blood:	n/a	n/a
20	POLR2A	chr6:44212831-44226077	HepG2	liver:	n/a	n/a
21	EP300	chr6:44223220-44223812	K562	blood:	n/a	n/a
22	POLR2A	chr6:44219366-44224156	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr6:44213292-44226484	K562	blood:	n/a	n/a
24	POLR2A	chr6:44213785-44233471	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:44220582-44224369	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr6:44213479-44233557	GM12892	blood:	n/a	n/a
27	POLR2A	chr6:44213515-44224070	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr6:44220491-44224250	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr6:44221850-44225638	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr6:44220402-44224194	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr6:44213910-44226034	K562	blood:	n/a	n/a
32	POLR2A	chr6:44221828-44224117	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:44220443-44225803	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr6:44221810-44225694	HepG2	liver:	n/a	n/a
35	POLR2A	chr6:44223512-44224142	H1-hESC	embryonic stem cell:	n/a	n/a
36	RUNX3	chr6:44223470-44224117	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:44220236-44225699	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr6:44212968-44226044	HepG2	liver:	n/a	n/a
39	POLR2A	chr6:44221854-44228812	GM19193	blood:	n/a	n/a
40	POLR2A	chr6:44221549-44224031	HL-60	blood:	n/a	n/a
41	POLR2A	chr6:44220482-44227119	GM18505	blood:	n/a	n/a
42	TCF12	chr6:44222176-44223680	A549	lung:	n/a	n/a
43	POLR2A	chr6:44213920-44225804	K562	blood:	n/a	n/a
44	POLR2A	chr6:44213632-44233614	GM12878	blood:	n/a	n/a
45	ATF2	chr6:44222187-44223919	GM12878	blood:	n/a	n/a
46	POLR2A	chr6:44221876-44226441	GM18526	blood:	n/a	n/a
47	RCOR1	chr6:44222587-44223641	K562	blood:	n/a	n/a
48	POLR2A	chr6:44213491-44224230	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:44220415-44224161	U87	brain:	n/a	n/a
50	POLR2A	chr6:44221892-44224154	HEK293	kidney:	n/a	n/a

No data

(count:20 , 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	chr6:44055374..44057616-chr6:44223363..44225359,2	MCF-7	breast:
5	chr6:44223567..44227779-chr6:44264321..44266816,4	MCF-7	breast:
6	chr6:44093370..44096253-chr6:44223564..44226835,7	K562	blood:
7	chr6:44223584..44225235-chr6:44274881..44277464,2	MCF-7	breast:
8	chr6:43593647..43595263-chr6:44222300..44225086,2	K562	blood:
9	chr6:44155358..44157152-chr6:44222734..44224483,2	MCF-7	breast:
10	chr6:44107494..44110338-chr6:44222390..44224695,3	K562	blood:
11	chr6:26025174..26027343-chr6:44222131..44224578,2	K562	blood:
12	chr6:44088008..44090239-chr6:44222816..44224474,2	MCF-7	breast:
13	chr6:44222894..44225212-chr7:135347349..135349019,2	K562	blood:
14	chr6:44222007..44224336-chrX:118601679..118603705,2	K562	blood:
15	chr6:44194780..44196882-chr6:44222691..44225125,2	MCF-7	breast:
16	chr6:43734520..43737591-chr6:44223261..44225123,3	K562	blood:
17	chr6:44102136..44105373-chr6:44223417..44225862,3	K562	blood:
18	chr6:44099546..44105774-chr6:44219938..44225862,7	K562	blood:
19	chr6:44222818..44225265-chr6:44280838..44282918,2	MCF-7	breast:
20	chr6:44222000..44226440-chr6:44278583..44281839,6	K562	blood:

No data

Variant related genes	Relation type
MIR4647	TF binding region
ENSG00000146221	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000005022	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000183239	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000224281	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000124608	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	chr6:44217200-44223800	Strong transcription	Placenta	Placenta
3	chr6:44217200-44223800	Strong transcription	Fetal Stomach	stomach
4	chr6:44217200-44223800	Strong transcription	Placenta Amnion	Placenta Amnion
5	chr6:44217400-44223800	Strong transcription	Fetal Intestine Large	intestine
6	chr6:44217600-44223800	Strong transcription	Colonic Mucosa	Colon
7	chr6:44217600-44223800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr6:44219400-44224400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:44219600-44223800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:44219800-44223800	Strong transcription	Right Ventricle	heart
11	chr6:44220800-44223800	Genic enhancers	Primary B cells from peripheral blood	blood
12	chr6:44221000-44224200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:44221200-44223800	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr6:44221200-44224000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:44221200-44224000	Weak transcription	Psoas Muscle	Psoas
16	chr6:44221600-44223800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:44222000-44223800	Genic enhancers	Brain Inferior Temporal Lobe	brain
18	chr6:44222000-44223800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
19	chr6:44222000-44224000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:44222000-44224000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:44222000-44224600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:44222200-44223800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
23	chr6:44222200-44223800	Genic enhancers	Stomach Smooth Muscle	stomach
24	chr6:44222200-44224000	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr6:44222400-44223800	Genic enhancers	Brain Hippocampus Middle	brain
26	chr6:44222400-44224000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:44222400-44224200	Enhancers	Fetal Heart	heart
28	chr6:44222400-44224800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:44222600-44224200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:44222600-44224400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:44222800-44224000	Genic enhancers	Fetal Muscle Leg	muscle
32	chr6:44222800-44224600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
33	chr6:44223000-44223800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
34	chr6:44223000-44224000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:44223000-44224000	Weak transcription	Small Intestine	intestine
36	chr6:44223000-44224000	Transcr. at gene 5' and 3'	HepG2	liver
37	chr6:44223000-44224200	Enhancers	Fetal Brain Male	brain
38	chr6:44223200-44223800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:44223200-44223800	Enhancers	Brain Angular Gyrus	brain
40	chr6:44223200-44223800	Weak transcription	Esophagus	oesophagus
41	chr6:44223200-44223800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr6:44223200-44223800	Weak transcription	Stomach Mucosa	stomach
43	chr6:44223200-44223800	Weak transcription	A549	lung
44	chr6:44223200-44223800	Weak transcription	HSMMtube	muscle
45	chr6:44223200-44223800	Transcr. at gene 5' and 3'	K562	blood
46	chr6:44223200-44224000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:44223200-44224000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:44223200-44224000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
49	chr6:44223200-44224000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:44223200-44224000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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