Variant report

Variant	rs370588250
Chromosome Location	chr6:24812230-24812231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:24809223-24813228	K562	blood:	n/a	n/a

Variant related genes	Relation type
FAM65B	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv5227	chr6:24774149-24824012	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv508396	chr6:24779648-24846309	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	esv3526381	chr6:24810723-24819196	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2592028	chr6:24810891-24818558	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv998494	chr6:24811395-24818052	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3416985	chr6:24811546-24818181	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3526379	chr6:24811690-24818093	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
11	esv6116	chr6:24811749-24818203	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
12	nsv511858	chr6:24811753-24817970	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
13	esv3472287	chr6:24811763-24818057	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
14	nsv435839	chr6:24811766-24818920	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
15	esv3526376	chr6:24811792-24818059	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
16	esv3526377	chr6:24811795-24818038	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
17	esv3526378	chr6:24811799-24818003	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
18	esv3526383	chr6:24811805-24817983	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
19	esv3472284	chr6:24811815-24818023	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
20	esv3472283	chr6:24811819-24818023	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
21	esv3472289	chr6:24811825-24817975	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
22	esv3526380	chr6:24811827-24818010	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
23	esv3526375	chr6:24811841-24817996	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
24	esv5139	chr6:24811845-24818009	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
25	esv3399153	chr6:24811847-24817980	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
26	esv3472288	chr6:24811859-24817960	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
27	esv3526382	chr6:24811869-24817970	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
28	nsv499497	chr6:24811875-24817963	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
29	esv3472290	chr6:24811876-24817963	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
30	esv3526385	chr6:24811876-24817963	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
31	esv1071217	chr6:24811887-24817962	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24777000-24847600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:24777000-24859600	Weak transcription	Psoas Muscle	Psoas
3	chr6:24788000-24832000	Weak transcription	Brain Substantia Nigra	brain
4	chr6:24788800-24848200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:24789200-24842600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:24798200-24827400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:24798200-24841200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:24800000-24843200	Weak transcription	Liver	Liver
9	chr6:24800400-24821800	Weak transcription	Fetal Heart	heart
10	chr6:24802600-24834200	Weak transcription	HSMM	muscle
11	chr6:24802800-24827400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:24803400-24817800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:24803400-24827400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:24804800-24858200	Weak transcription	Gastric	stomach
15	chr6:24806200-24842400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:24808400-24817800	Weak transcription	Dnd41	blood
17	chr6:24808600-24823400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:24808800-24845600	Weak transcription	Fetal Stomach	stomach
19	chr6:24809000-24823200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:24809800-24820600	Weak transcription	Placenta	Placenta
21	chr6:24809800-24827400	Weak transcription	GM12878-XiMat	blood
22	chr6:24809800-24839200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:24810000-24818600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:24810000-24824400	Weak transcription	NHDF-Ad	bronchial
25	chr6:24810000-24827400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:24810000-24831600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:24810000-24832600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:24810200-24821800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:24810200-24827400	Weak transcription	Brain Germinal Matrix	brain
30	chr6:24810400-24818000	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:24810400-24818600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:24810400-24821800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:24810400-24821800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:24810400-24823200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:24810600-24817800	Weak transcription	Primary B cells from cord blood	blood
36	chr6:24810600-24818200	Weak transcription	Thymus	Thymus
37	chr6:24810600-24821800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:24810600-24821800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:24810600-24823000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr6:24810600-24827400	Weak transcription	Left Ventricle	heart
41	chr6:24810600-24827400	Weak transcription	Lung	lung
42	chr6:24810800-24821600	Weak transcription	Spleen	Spleen
43	chr6:24811000-24818000	Weak transcription	Fetal Thymus	thymus
44	chr6:24811000-24818000	Weak transcription	HSMMtube	muscle
45	chr6:24811000-24818400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:24811200-24817800	Weak transcription	Primary T cells from cord blood	blood
47	chr6:24811200-24818000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr6:24811200-24818400	Weak transcription	Brain Anterior Caudate	brain
49	chr6:24811400-24817800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:24811400-24818000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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