Variant report

Variant	rs548286793
Chromosome Location	chr10:6341524-6341525
allele	A/G
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	KAP1	chr10:6340953-6341599	U2OS	brain:	n/a	n/a
2	STAT3	chr10:6340861-6341568	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr10:6341199-6341528	HepG2	liver:	n/a	chr10:6341376-6341387 chr10:6341377-6341386
4	JUN	chr10:6341317-6341530	HepG2	liver:	n/a	chr10:6341319-6341327 chr10:6341317-6341329 chr10:6341430-6341440 chr10:6341318-6341328 chr10:6341446-6341455
5	FOS	chr10:6341146-6341637	MCF10A-Er-Src	breast:	n/a	chr10:6341319-6341327 chr10:6341317-6341329 chr10:6341430-6341440 chr10:6341318-6341328 chr10:6341446-6341455
6	JUND	chr10:6341241-6341541	HepG2	liver:	n/a	chr10:6341319-6341327 chr10:6341317-6341329 chr10:6341430-6341440 chr10:6341318-6341328 chr10:6341444-6341455 chr10:6341446-6341455 chr10:6341429-6341440
7	MYC	chr10:6341288-6341530	MCF-7	breast:	n/a	chr10:6341376-6341387 chr10:6341377-6341386
8	MYC	chr10:6341059-6341604	MCF10A-Er-Src	breast:	n/a	chr10:6341376-6341387 chr10:6341377-6341386
9	TCF7L2	chr10:6341182-6341723	HCT-116	colon:	n/a	chr10:6341319-6341328
10	MYC	chr10:6341228-6341563	Hela-S3	cervix:	n/a	chr10:6341376-6341387 chr10:6341377-6341386
11	POLR2A	chr10:6341029-6343357	GM12878	blood:	n/a	n/a
12	MAX	chr10:6340854-6342241	HCT-116	colon:	n/a	chr10:6341376-6341387 chr10:6341377-6341386
13	ELF1	chr10:6341116-6341590	A549	lung:	n/a	n/a
14	NR3C1	chr10:6341144-6341709	A549	lung:	n/a	chr10:6341446-6341455 chr10:6341319-6341328 chr10:6341430-6341439 chr10:6341318-6341327 chr10:6341445-6341454
15	USF1	chr10:6341037-6341539	A549	lung:	n/a	chr10:6341377-6341386 chr10:6341377-6341386
16	BCL3	chr10:6340982-6341955	A549	lung:	n/a	chr10:6341456-6341469
17	JUND	chr10:6341214-6341634	HepG2	liver:	n/a	chr10:6341319-6341327 chr10:6341317-6341329 chr10:6341430-6341440 chr10:6341318-6341328 chr10:6341444-6341455 chr10:6341446-6341455 chr10:6341429-6341440
18	NR3C1	chr10:6341170-6341662	A549	lung:	n/a	chr10:6341446-6341455 chr10:6341319-6341328 chr10:6341430-6341439 chr10:6341318-6341327 chr10:6341445-6341454
19	MAFK	chr10:6341328-6341542	HepG2	liver:	n/a	chr10:6341429-6341439
20	JUND	chr10:6340933-6341907	HCT-116	colon:	n/a	chr10:6341319-6341327 chr10:6341317-6341329 chr10:6340965-6340974 chr10:6341430-6341440 chr10:6341318-6341328 chr10:6341444-6341455 chr10:6341446-6341455 chr10:6341429-6341440
21	CHD2	chr10:6341191-6341545	Hela-S3	cervix:	n/a	n/a
22	FOXA1	chr10:6341126-6341566	HepG2	liver:	n/a	n/a
23	REST	chr10:6341183-6341615	A549	lung:	n/a	chr10:6341327-6341340
24	BHLHE40	chr10:6341091-6341640	HepG2	liver:	n/a	chr10:6341377-6341386 chr10:6341377-6341386
25	FOSL2	chr10:6341051-6341685	A549	lung:	n/a	chr10:6341319-6341327 chr10:6341428-6341439 chr10:6341317-6341329 chr10:6341430-6341440 chr10:6341318-6341328 chr10:6341446-6341455 chr10:6341443-6341454
26	MAX	chr10:6340903-6341957	HCT-116	colon:	n/a	chr10:6341376-6341387 chr10:6341377-6341386
27	JUND	chr10:6340876-6341793	HCT-116	colon:	n/a	chr10:6341319-6341327 chr10:6341317-6341329 chr10:6340965-6340974 chr10:6341430-6341440 chr10:6341318-6341328 chr10:6341444-6341455 chr10:6341446-6341455 chr10:6341429-6341440
28	MAX	chr10:6341178-6341599	Hela-S3	cervix:	n/a	chr10:6341376-6341387 chr10:6341377-6341386
29	FOSL1	chr10:6340986-6341964	HCT-116	colon:	n/a	chr10:6341319-6341327 chr10:6341317-6341329 chr10:6341430-6341440 chr10:6341318-6341328 chr10:6341446-6341455
30	USF2	chr10:6341134-6341583	Hela-S3	cervix:	n/a	chr10:6341377-6341386 chr10:6341377-6341386
31	MYC	chr10:6341151-6341603	MCF10A-Er-Src	breast:	n/a	chr10:6341376-6341387 chr10:6341377-6341386
32	CEBPB	chr10:6340999-6341861	A549	lung:	n/a	n/a
33	BHLHE40	chr10:6341185-6341601	K562	blood:	n/a	chr10:6341377-6341386 chr10:6341377-6341386
34	STAT3	chr10:6341036-6341605	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr10:6341348-6341572	Hela-S3	cervix:	n/a	n/a
36	CREB1	chr10:6341291-6341574	A549	lung:	n/a	n/a
37	SETDB1	chr10:6340902-6341624	U2OS	brain:	n/a	n/a
38	TEAD4	chr10:6341071-6341756	A549	lung:	n/a	n/a
39	STAT3	chr10:6341050-6341798	MCF10A-Er-Src	breast:	n/a	chr10:6341631-6341639
40	JUN	chr10:6340979-6341731	K562	blood:	n/a	chr10:6341319-6341327 chr10:6341317-6341329 chr10:6341430-6341440 chr10:6341318-6341328 chr10:6341446-6341455
41	TAL1	chr10:6341429-6341589	K562	blood:	n/a	n/a
42	SMARCC1	chr10:6341214-6342244	Hela-S3	cervix:	n/a	chr10:6341318-6341327
43	NR3C1	chr10:6341069-6341901	A549	lung:	n/a	chr10:6341446-6341455 chr10:6341319-6341328 chr10:6341430-6341439 chr10:6341318-6341327 chr10:6341445-6341454
44	FOSL1	chr10:6340967-6341861	HCT-116	colon:	n/a	chr10:6341319-6341327 chr10:6341317-6341329 chr10:6341430-6341440 chr10:6341318-6341328 chr10:6341446-6341455
45	EP300	chr10:6338796-6342469	A549	lung:	n/a	chr10:6340963-6340977 chr10:6341190-6341200 chr10:6339630-6339640
46	ATF3	chr10:6341022-6341723	A549	lung:	n/a	n/a
47	GATA3	chr10:6340810-6342311	A549	lung:	n/a	chr10:6340965-6340975 chr10:6341322-6341329
48	FOSL2	chr10:6339286-6342300	A549	lung:	n/a	chr10:6341319-6341327 chr10:6341428-6341439 chr10:6341317-6341329 chr10:6340965-6340974 chr10:6341430-6341440 chr10:6341318-6341328 chr10:6341446-6341455 chr10:6339976-6339987 chr10:6341443-6341454
49	CUX1	chr10:6341348-6341664	K562	blood:	n/a	n/a
50	MXI1	chr10:6341246-6341586	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:6204469..6207295-chr10:6338789..6342054,3	MCF-7	breast:
2	chr10:6301955..6304716-chr10:6339271..6341993,2	MCF-7	breast:
3	chr10:6243246..6245035-chr10:6341115..6343745,2	K562	blood:
4	chr10:6240895..6249179-chr10:6337425..6345825,48	MCF-7	breast:
5	chr10:6249507..6251896-chr10:6339799..6342783,2	MCF-7	breast:
6	chr10:6327503..6329352-chr10:6339746..6341603,2	MCF-7	breast:
7	chr10:6341160..6345288-chr10:6356730..6359741,4	MCF-7	breast:
8	chr10:6339981..6341771-chr10:6430124..6433037,2	MCF-7	breast:
9	chr10:6242967..6247217-chr10:6336875..6343685,22	MCF-7	breast:
10	chr10:6338687..6345306-chr10:6353335..6358938,10	MCF-7	breast:
11	chr10:6306983..6309812-chr10:6338962..6341584,2	MCF-7	breast:
12	chr10:6316454..6323166-chr10:6337458..6343783,14	MCF-7	breast:
13	chr10:6339849..6343647-chr10:6369137..6372590,4	MCF-7	breast:
14	chr10:6279091..6282826-chr10:6339063..6342558,5	MCF-7	breast:
15	chr10:6336971..6341697-chr10:6441247..6445868,11	MCF-7	breast:
16	chr10:6338433..6344348-chr10:6402915..6408706,10	MCF-7	breast:
17	chr10:6148853..6150588-chr10:6340669..6343232,2	MCF-7	breast:
18	chr10:6339890..6341669-chr10:6345172..6346790,2	MCF-7	breast:
19	chr10:6339999..6343004-chr10:6366040..6368957,3	MCF-7	breast:

Variant related genes	Relation type
SDCBPP1	TF binding region
ENSG00000170525	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000215244	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	nsv430123	chr10:6309402-6448384	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv430125	chr10:6322167-6477267	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv971867	chr10:6341441-6353045	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6333000-6341800	Weak transcription	NHDF-Ad	bronchial
2	chr10:6333800-6341800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr10:6334000-6341600	Weak transcription	Primary T cells from cord blood	blood
4	chr10:6334000-6341600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:6334200-6341600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:6334600-6341600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr10:6334600-6341600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr10:6338200-6342200	Enhancers	Duodenum Mucosa	Duodenum
9	chr10:6338400-6344000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:6338600-6343000	Enhancers	HMEC	breast
11	chr10:6338600-6343800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:6338800-6342200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:6338800-6342200	Enhancers	Hela-S3	cervix
14	chr10:6338800-6342800	Enhancers	Aorta	Aorta
15	chr10:6338800-6343800	Enhancers	Stomach Mucosa	stomach
16	chr10:6338800-6345000	Enhancers	Fetal Intestine Small	intestine
17	chr10:6339000-6343800	Enhancers	Lung	lung
18	chr10:6339200-6345200	Enhancers	Fetal Intestine Large	intestine
19	chr10:6339400-6342000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:6339400-6342200	Weak transcription	HSMM	muscle
21	chr10:6339400-6342600	Weak transcription	Colonic Mucosa	Colon
22	chr10:6339400-6342800	Weak transcription	Spleen	Spleen
23	chr10:6339600-6342200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:6339600-6342200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr10:6339600-6342200	Weak transcription	Fetal Muscle Leg	muscle
26	chr10:6339600-6342600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr10:6339600-6343800	Enhancers	Primary B cells from peripheral blood	blood
28	chr10:6339600-6346400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr10:6339800-6341600	Weak transcription	Small Intestine	intestine
30	chr10:6339800-6341600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr10:6339800-6342800	Enhancers	Brain Substantia Nigra	brain
32	chr10:6339800-6343000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:6340200-6341800	Enhancers	Pancreas	Pancrea
34	chr10:6340200-6341800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr10:6340200-6342600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr10:6340200-6343400	Weak transcription	Fetal Kidney	kidney
37	chr10:6340200-6349000	Weak transcription	Adipose Nuclei	Adipose
38	chr10:6340400-6341600	Weak transcription	Fetal Thymus	thymus
39	chr10:6340400-6341800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr10:6340400-6341800	Flanking Active TSS	A549	lung
41	chr10:6340400-6342000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:6340400-6342000	Weak transcription	Fetal Lung	lung
43	chr10:6340400-6342200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:6340600-6342000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:6340600-6343200	Enhancers	Brain Anterior Caudate	brain
46	chr10:6340800-6341800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr10:6340800-6342800	Weak transcription	Brain Hippocampus Middle	brain
48	chr10:6340800-6343000	Enhancers	Gastric	stomach
49	chr10:6341000-6341600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr10:6341000-6341600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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