Variant report

Variant	rs576701454
Chromosome Location	chr10:6259113-6259114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:6258673-6259703	A549	lung:	n/a	n/a
2	POLR2A	chr10:6258204-6259176	GM12891	blood:	n/a	n/a
3	POLR2A	chr10:6259113-6259299	A549	lung:	n/a	n/a
4	POLR2A	chr10:6258742-6260277	U87	brain:	n/a	n/a
5	POLR2A	chr10:6258321-6260341	U87	brain:	n/a	n/a
6	POLR2A	chr10:6259102-6259295	K562	blood:	n/a	n/a
7	CREB1	chr10:6259013-6259263	A549	lung:	n/a	n/a
8	POLR2A	chr10:6254765-6260349	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:6259112-6259288	A549	lung:	n/a	n/a
10	POLR2A	chr10:6258706-6259574	A549	lung:	n/a	n/a
11	POLR2A	chr10:6254707-6260249	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6256967..6259883-chr10:6260923..6262810,2	MCF-7	breast:
2	chr10:6256631..6260538-chr10:6441320..6445135,3	MCF-7	breast:
3	chr10:6242739..6248482-chr10:6257769..6263853,7	MCF-7	breast:
4	chr10:6252635..6254396-chr10:6258797..6261104,2	MCF-7	breast:
5	chr10:6168287..6170696-chr10:6258777..6261462,2	MCF-7	breast:

No data

Variant related genes	Relation type
PFKFB3	TF binding region
ENSG00000170525	Chromatin interaction
ENSG00000213994	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1041039	chr10:6217724-6354858	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv894833	chr10:6237156-6261704	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv894834	chr10:6237156-6272169	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv894835	chr10:6242176-6268422	Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv894836	chr10:6246678-6435374	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv525622	chr10:6251252-6281215	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv437094	chr10:6258433-6261704	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6246000-6272200	Weak transcription	K562	blood
2	chr10:6247000-6280600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr10:6247200-6281000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr10:6253200-6278800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:6253400-6276600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:6253400-6276800	Strong transcription	Fetal Intestine Small	intestine
7	chr10:6253400-6278400	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr10:6253800-6269200	Weak transcription	Fetal Kidney	kidney
9	chr10:6253800-6281000	Weak transcription	Stomach Mucosa	stomach
10	chr10:6254000-6259600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:6254000-6273400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr10:6254200-6273800	Strong transcription	Spleen	Spleen
13	chr10:6254400-6279200	Strong transcription	Dnd41	blood
14	chr10:6254600-6260800	Weak transcription	NHDF-Ad	bronchial
15	chr10:6254600-6270000	Weak transcription	Right Atrium	heart
16	chr10:6254600-6270400	Weak transcription	Fetal Brain Male	brain
17	chr10:6254600-6275600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr10:6254600-6279200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr10:6254600-6280000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr10:6254800-6270400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:6254800-6277800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:6255000-6261800	Strong transcription	Primary B cells from cord blood	blood
23	chr10:6255000-6279200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:6255000-6279200	Strong transcription	Fetal Stomach	stomach
25	chr10:6255200-6263800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr10:6255200-6270400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr10:6255200-6277000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr10:6255200-6277800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr10:6255200-6279200	Strong transcription	Primary T cells from cord blood	blood
30	chr10:6255200-6279200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr10:6255200-6279400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:6255400-6259200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr10:6255400-6259800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:6255400-6260800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:6255400-6260800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr10:6255400-6261400	Strong transcription	Colonic Mucosa	Colon
37	chr10:6255400-6266000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:6255400-6270200	Strong transcription	Fetal Lung	lung
39	chr10:6255400-6272200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr10:6255400-6272600	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr10:6255400-6276600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr10:6255400-6276600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr10:6255400-6276600	Strong transcription	Brain Cingulate Gyrus	brain
44	chr10:6255400-6276800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr10:6255400-6276800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr10:6255400-6276800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr10:6255400-6277400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:6255400-6278400	Strong transcription	Liver	Liver
49	chr10:6255400-6278600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr10:6255400-6278800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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