Variant report

Variant	rs59615405
Chromosome Location	chr10:43950790-43950791
allele	C/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	POLR2A	chr10:43950654-43951581	ECC-1	luminal epithelium:	n/a	n/a
2	SP1	chr10:43950641-43951603	HCT-116	colon:	n/a	chr10:43951193-43951205 chr10:43951190-43951204 chr10:43951012-43951021 chr10:43951193-43951205 chr10:43951195-43951204 chr10:43951194-43951203 chr10:43951010-43951022 chr10:43951194-43951204 chr10:43951010-43951022
3	MAX	chr10:43950743-43951538	Hela-S3	cervix:	n/a	chr10:43951194-43951204
4	POLR2A	chr10:43950773-43951120	HepG2	liver:	n/a	n/a
5	WRNIP1	chr10:43950764-43951540	GM12878	blood:	n/a	n/a
6	NFIC	chr10:43950660-43951574	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr10:43950750-43951575	HepG2	liver:	n/a	n/a
8	ELF1	chr10:43950702-43951569	HepG2	liver:	n/a	chr10:43951181-43951193 chr10:43951191-43951203
9	MBD4	chr10:43950688-43951097	HepG2	liver:	n/a	n/a
10	MYC	chr10:43950726-43951860	K562	blood:	n/a	chr10:43951194-43951204 chr10:43951662-43951671
11	POLR2A	chr10:43950734-43951527	GM12878	blood:	n/a	n/a
12	USF1	chr10:43950704-43951274	A549	lung:	n/a	n/a
13	RCOR1	chr10:43950777-43951524	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr10:43950176-43951572	GM12891	blood:	n/a	n/a
15	ETS1	chr10:43950769-43951528	K562	blood:	n/a	chr10:43951416-43951432 chr10:43951348-43951359
16	POLR2A	chr10:43950592-43951582	Hela-S3	cervix:	n/a	n/a
17	CREB1	chr10:43950771-43951409	A549	lung:	n/a	n/a
18	HCFC1	chr10:43950722-43951520	K562	blood:	n/a	n/a
19	HDAC2	chr10:43950765-43951469	HepG2	liver:	n/a	chr10:43951108-43951117 chr10:43951110-43951119
20	EP300	chr10:43950624-43951650	A549	lung:	n/a	chr10:43951187-43951203
21	POLR2A	chr10:43950752-43951490	GM10847	blood:	n/a	n/a
22	MAX	chr10:43950709-43951583	K562	blood:	n/a	chr10:43951194-43951204
23	RUNX3	chr10:43950596-43951511	GM12878	blood:	n/a	chr10:43950944-43950953 chr10:43950944-43950953
24	STAT1	chr10:43950761-43951797	GM12878	blood:	n/a	n/a
25	ELF1	chr10:43950688-43951614	MCF-7	breast:	n/a	chr10:43951181-43951193 chr10:43951191-43951203
26	IRF4	chr10:43950733-43951466	GM12878	blood:	n/a	n/a
27	STAT5A	chr10:43950648-43951537	K562	blood:	n/a	n/a
28	POLR2A	chr10:43950714-43951570	GM18505	blood:	n/a	n/a
29	POLR2A	chr10:43950654-43951567	HepG2	liver:	n/a	n/a
30	POLR2A	chr10:43950495-43951641	PFSK-1	brain:	n/a	n/a
31	ELF1	chr10:43950595-43951836	GM12878	blood:	n/a	chr10:43951181-43951193 chr10:43951191-43951203
32	POLR2A	chr10:43950657-43951515	A549	lung:	n/a	n/a
33	ZBTB7A	chr10:43950764-43951433	K562	blood:	n/a	chr10:43950983-43950990
34	RAD21	chr10:43950725-43951634	ECC-1	luminal epithelium:	n/a	n/a
35	ELF1	chr10:43950742-43951482	A549	lung:	n/a	chr10:43951181-43951193 chr10:43951191-43951203
36	MAZ	chr10:43950761-43951466	Hela-S3	cervix:	n/a	chr10:43951194-43951204
37	TCF12	chr10:43950679-43951532	ECC-1	luminal epithelium:	n/a	n/a
38	MBD4	chr10:43950641-43951364	HepG2	liver:	n/a	n/a
39	BCL3	chr10:43950596-43951564	A549	lung:	n/a	chr10:43951546-43951559 chr10:43951198-43951211
40	MXI1	chr10:43950703-43951451	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr10:43949922-43951825	Hela-S3	cervix:	n/a	n/a
42	MAX	chr10:43950724-43951756	GM12878	blood:	n/a	chr10:43951194-43951204 chr10:43951662-43951671
43	SMC3	chr10:43950763-43951522	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr10:43950760-43950910	HVMF	connective:	n/a	n/a
45	GTF2F1	chr10:43950778-43951532	K562	blood:	n/a	n/a
46	YY1	chr10:43950743-43951709	K562	blood:	n/a	chr10:43951197-43951211 chr10:43951191-43951205
47	STAT3	chr10:43950756-43951455	MCF10A-Er-Src	breast:	n/a	chr10:43950987-43950998 chr10:43951044-43951055
48	ATF2	chr10:43950720-43951447	GM12878	blood:	n/a	n/a
49	GABPA	chr10:43950487-43951530	MCF-7	breast:	n/a	chr10:43951108-43951119 chr10:43951108-43951117 chr10:43951108-43951122 chr10:43951110-43951119 chr10:43951105-43951119
50	EP300	chr10:43950694-43951840	GM12878	blood:	n/a	chr10:43951187-43951203

No.	Distal block	Cell Line	Cell type
1	chr10:43890245..43893733-chr10:43950048..43952889,6	MCF-7	breast:
2	chr10:43856796..43859444-chr10:43950333..43952475,2	MCF-7	breast:
3	chr10:43930874..43934590-chr10:43949528..43951985,5	K562	blood:
4	chr10:43950502..43951282-chr19:752665..753169,2	Hela-S3	cervix:
5	chr10:43941606..43943262-chr10:43948647..43951071,2	K562	blood:
6	chr10:43943576..43945411-chr10:43948645..43950880,3	K562	blood:
7	chr10:43930912..43933891-chr10:43949765..43952473,2	MCF-7	breast:
8	chr10:43901812..43907473-chr10:43949275..43952974,10	MCF-7	breast:
9	chr10:43943911..43945434-chr10:43948722..43951171,2	K562	blood:
10	chr10:43901457..43906189-chr10:43948713..43953343,15	MCF-7	breast:
11	chr10:43873108..43875014-chr10:43949897..43951449,2	MCF-7	breast:
12	chr10:43936170..43937727-chr10:43949180..43951482,2	K562	blood:
13	chr10:43930995..43932996-chr10:43948327..43951510,4	MCF-7	breast:
14	chr10:43930579..43934633-chr10:43949587..43954210,8	K562	blood:
15	chr10:43843617..43844600-chr10:43950622..43951351,3	K562	blood:
16	chr10:43949801..43952727-chr10:43954596..43956488,2	K562	blood:
17	chr10:43950516..43951434-chr11:62413539..62414387,2	Hela-S3	cervix:
18	chr10:43879008..43883052-chr10:43949060..43952010,4	K562	blood:
19	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:
20	chr10:43870160..43871851-chr10:43949319..43951127,2	K562	blood:
21	chr10:43911252..43915931-chr10:43947419..43953058,11	K562	blood:
22	chr10:43627846..43629812-chr10:43949742..43951842,2	MCF-7	breast:
23	chr10:43848475..43851407-chr10:43948589..43951104,3	MCF-7	breast:
24	chr10:43945671..43947485-chr10:43949391..43951784,2	K562	blood:
25	chr10:43902513..43903341-chr10:43950698..43951343,2	HCT-116	colon:

Variant related genes	Relation type
RNU7-193P	TF binding region
ENSG00000169813	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000243660	Chromatin interaction
ENSG00000221400	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12570790	0.90[AFR][1000 genomes]
rs12571914	0.90[AFR][1000 genomes]
rs55659835	0.90[AFR][1000 genomes]
rs55957438	0.89[AFR][1000 genomes]
rs56305563	1.00[AFR][1000 genomes]
rs57050417	1.00[AFR][1000 genomes]
rs58052353	1.00[AFR][1000 genomes]
rs58829593	0.89[AFR][1000 genomes]
rs59737279	0.90[AFR][1000 genomes]
rs59770090	0.90[AFR][1000 genomes]
rs59946114	1.00[AFR][1000 genomes]
rs60057912	0.90[AFR][1000 genomes]
rs60274910	0.90[AFR][1000 genomes]
rs61859048	0.90[AFR][1000 genomes]
rs61859049	0.90[AFR][1000 genomes]
rs61859050	0.90[AFR][1000 genomes]
rs61859051	0.90[AFR][1000 genomes]
rs61859052	1.00[AFR][1000 genomes]
rs61859058	0.90[AFR][1000 genomes]
rs61859967	0.90[AFR][1000 genomes]
rs61859968	0.90[AFR][1000 genomes]
rs74137733	1.00[AFR][1000 genomes]
rs74137734	1.00[AFR][1000 genomes]
rs74137735	1.00[AFR][1000 genomes]
rs74137736	1.00[AFR][1000 genomes]
rs74137737	0.90[AFR][1000 genomes]
rs74137738	1.00[AFR][1000 genomes]
rs74137739	1.00[AFR][1000 genomes]
rs74137740	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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	69 gene(s)	inside rSNPs	diseases
3	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv3448813	chr10:43919995-43950867	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1043746	chr10:43940898-43977155	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr10:43948200-43950800	Weak transcription	Spleen	Spleen
2	chr10:43949600-43951400	Active TSS	Right Ventricle	heart
3	chr10:43949800-43951000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr10:43949800-43951400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:43949800-43951400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr10:43950000-43951400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:43950000-43951400	Active TSS	Thymus	Thymus
8	chr10:43950000-43951400	Active TSS	GM12878-XiMat	blood
9	chr10:43950000-43951400	Active TSS	K562	blood
10	chr10:43950000-43951400	Active TSS	NHDF-Ad	bronchial
11	chr10:43950000-43951600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr10:43950000-43951800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr10:43950000-43951800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:43950000-43952000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr10:43950200-43950800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr10:43950200-43950800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr10:43950200-43950800	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr10:43950200-43950800	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr10:43950200-43950800	Active TSS	Right Atrium	heart
20	chr10:43950200-43951000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr10:43950200-43951000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr10:43950200-43951200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:43950200-43951200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:43950200-43951400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr10:43950200-43951400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr10:43950200-43951400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:43950200-43951400	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr10:43950200-43951400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:43950200-43951400	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr10:43950200-43951400	Active TSS	Brain Germinal Matrix	brain
31	chr10:43950200-43951400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr10:43950200-43951400	Active TSS	Fetal Lung	lung
33	chr10:43950200-43951400	Active TSS	Left Ventricle	heart
34	chr10:43950200-43951400	Active TSS	Pancreas	Pancrea
35	chr10:43950200-43951400	Active TSS	Stomach Smooth Muscle	stomach
36	chr10:43950200-43951400	Active TSS	HSMM	muscle
37	chr10:43950200-43951400	Active TSS	NHLF	lung
38	chr10:43950200-43951600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr10:43950200-43951600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:43950200-43951600	Active TSS	Brain Angular Gyrus	brain
41	chr10:43950200-43951600	Active TSS	Colon Smooth Muscle	Colon
42	chr10:43950200-43951600	Active TSS	Fetal Heart	heart
43	chr10:43950200-43951600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr10:43950200-43951600	Active TSS	Rectal Smooth Muscle	rectum
45	chr10:43950200-43951800	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr10:43950200-43951800	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr10:43950200-43951800	Active TSS	Fetal Brain Female	brain
48	chr10:43950200-43951800	Active TSS	Psoas Muscle	Psoas
49	chr10:43950200-43952000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr10:43950200-43952200	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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