Variant report

Variant	rs10899808
Chromosome Location	chr10:43951359-43951360
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	WRNIP1	chr10:43950764-43951540	GM12878	blood:	n/a	n/a
5	NFIC	chr10:43950660-43951574	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr10:43950750-43951575	HepG2	liver:	n/a	n/a
7	CTCF	chr10:43951220-43951370	GM12871	blood:	n/a	n/a
8	JUND	chr10:43950847-43951389	HepG2	liver:	n/a	n/a
9	ELF1	chr10:43950702-43951569	HepG2	liver:	n/a	chr10:43951181-43951193 chr10:43951191-43951203
10	MYC	chr10:43950726-43951860	K562	blood:	n/a	chr10:43951194-43951204 chr10:43951662-43951671
11	CTCF	chr10:43951220-43951370	AG09319	gingival:	n/a	n/a
12	POLR2A	chr10:43950734-43951527	GM12878	blood:	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	CTCF	chr10:43951240-43951390	GM12866	blood:	n/a	n/a
16	CTCF	chr10:43951145-43951439	GM12878	blood:	n/a	chr10:43951188-43951201 chr10:43951188-43951201
17	ETS1	chr10:43950769-43951528	K562	blood:	n/a	chr10:43951416-43951432 chr10:43951348-43951359
18	POLR2A	chr10:43950592-43951582	Hela-S3	cervix:	n/a	n/a
19	ZKSCAN1	chr10:43950817-43951675	Hela-S3	cervix:	n/a	n/a
20	NRF1	chr10:43950930-43951362	Hela-S3	cervix:	n/a	chr10:43951107-43951118 chr10:43951108-43951119 chr10:43951108-43951117 chr10:43951108-43951122 chr10:43951110-43951119 chr10:43951105-43951119
21	CREB1	chr10:43950771-43951409	A549	lung:	n/a	n/a
22	JUN	chr10:43950822-43951476	H1-hESC	embryonic stem cell:	n/a	chr10:43950832-43950841
23	HCFC1	chr10:43950722-43951520	K562	blood:	n/a	n/a
24	HDAC2	chr10:43950765-43951469	HepG2	liver:	n/a	chr10:43951108-43951117 chr10:43951110-43951119
25	RFX5	chr10:43950851-43951788	K562	blood:	n/a	n/a
26	EP300	chr10:43950624-43951650	A549	lung:	n/a	chr10:43951187-43951203
27	POLR2A	chr10:43950752-43951490	GM10847	blood:	n/a	n/a
28	MAX	chr10:43950709-43951583	K562	blood:	n/a	chr10:43951194-43951204
29	CTCF	chr10:43951220-43951370	GM12867	blood:	n/a	n/a
30	RUNX3	chr10:43950596-43951511	GM12878	blood:	n/a	chr10:43950944-43950953 chr10:43950944-43950953
31	STAT1	chr10:43950761-43951797	GM12878	blood:	n/a	n/a
32	ELF1	chr10:43950688-43951614	MCF-7	breast:	n/a	chr10:43951181-43951193 chr10:43951191-43951203
33	IRF4	chr10:43950733-43951466	GM12878	blood:	n/a	n/a
34	STAT5A	chr10:43950648-43951537	K562	blood:	n/a	n/a
35	ATF1	chr10:43950793-43951427	K562	blood:	n/a	n/a
36	POLR2A	chr10:43950714-43951570	GM18505	blood:	n/a	n/a
37	POLR2A	chr10:43950654-43951567	HepG2	liver:	n/a	n/a
38	POLR2A	chr10:43950495-43951641	PFSK-1	brain:	n/a	n/a
39	ELF1	chr10:43950595-43951836	GM12878	blood:	n/a	chr10:43951181-43951193 chr10:43951191-43951203
40	YY1	chr10:43951039-43951494	H1-hESC	embryonic stem cell:	n/a	chr10:43951197-43951211 chr10:43951191-43951205
41	POLR2A	chr10:43950657-43951515	A549	lung:	n/a	n/a
42	CTCF	chr10:43951176-43951413	GM13976	blood:	n/a	chr10:43951188-43951201 chr10:43951188-43951201
43	ZBTB7A	chr10:43950764-43951433	K562	blood:	n/a	chr10:43950983-43950990
44	MYC	chr10:43950848-43951435	HUVEC	blood vessel:	n/a	chr10:43951194-43951204
45	RAD21	chr10:43950725-43951634	ECC-1	luminal epithelium:	n/a	n/a
46	USF2	chr10:43951338-43951446	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr10:43951182-43951436	HUVEC	blood vessel:	n/a	chr10:43951188-43951201 chr10:43951188-43951201
48	ATF3	chr10:43950811-43951427	A549	lung:	n/a	n/a
49	ELF1	chr10:43950742-43951482	A549	lung:	n/a	chr10:43951181-43951193 chr10:43951191-43951203
50	MAZ	chr10:43950761-43951466	Hela-S3	cervix:	n/a	chr10:43951194-43951204

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	chr10:43930912..43933891-chr10:43949765..43952473,2	MCF-7	breast:
5	chr10:43901812..43907473-chr10:43949275..43952974,10	MCF-7	breast:
6	chr10:43901457..43906189-chr10:43948713..43953343,15	MCF-7	breast:
7	chr10:43873108..43875014-chr10:43949897..43951449,2	MCF-7	breast:
8	chr10:43885591..43886523-chr10:43950923..43951849,2	K562	blood:
9	chr10:43951235..43952941-chr10:43963586..43966381,2	K562	blood:
10	chr10:43936170..43937727-chr10:43949180..43951482,2	K562	blood:
11	chr10:43930995..43932996-chr10:43948327..43951510,4	MCF-7	breast:
12	chr10:43930579..43934633-chr10:43949587..43954210,8	K562	blood:
13	chr10:43932003..43932808-chr10:43951246..43951804,2	K562	blood:
14	chr10:43943009..43945472-chr10:43950940..43952726,2	MCF-7	breast:
15	chr10:43949801..43952727-chr10:43954596..43956488,2	K562	blood:
16	chr10:43950516..43951434-chr11:62413539..62414387,2	Hela-S3	cervix:
17	chr10:43788788..43789350-chr10:43950801..43951694,2	K562	blood:
18	chr10:43932264..43932783-chr10:43950883..43951704,2	MCF-7	breast:
19	chr10:43879008..43883052-chr10:43949060..43952010,4	K562	blood:
20	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:
21	chr10:43904720..43905397-chr10:43951179..43951725,2	MCF-7	breast:
22	chr10:43885901..43886431-chr10:43950839..43951795,3	MCF-7	breast:
23	chr10:43911252..43915931-chr10:43947419..43953058,11	K562	blood:
24	chr10:43627846..43629812-chr10:43949742..43951842,2	MCF-7	breast:
25	chr10:43945671..43947485-chr10:43949391..43951784,2	K562	blood:

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

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10409	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10899791	0.84[ASN][1000 genomes]
rs10899793	0.84[ASN][1000 genomes]
rs10899796	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10899800	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10899801	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899802	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899803	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899806	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899807	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238525	0.82[ASN][1000 genomes]
rs11238530	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11238532	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11238536	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11238553	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11238558	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11238566	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11238572	0.92[AMR][1000 genomes]
rs11525297	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11815101	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12220230	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12220528	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12245541	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12250140	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12254798	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12261855	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12262836	0.92[AMR][1000 genomes]
rs13376803	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13376924	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17153534	0.84[ASN][1000 genomes]
rs28865415	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4648316	0.84[ASN][1000 genomes]
rs59383062	0.84[ASN][1000 genomes]
rs59806733	0.85[ASN][1000 genomes]
rs7099802	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7907179	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7921001	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43949600-43951400	Active TSS	Right Ventricle	heart
2	chr10:43949800-43951400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:43949800-43951400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr10:43950000-43951400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:43950000-43951400	Active TSS	Thymus	Thymus
6	chr10:43950000-43951400	Active TSS	GM12878-XiMat	blood
7	chr10:43950000-43951400	Active TSS	K562	blood
8	chr10:43950000-43951400	Active TSS	NHDF-Ad	bronchial
9	chr10:43950000-43951600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr10:43950000-43951800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr10:43950000-43951800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr10:43950000-43952000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr10:43950200-43951400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr10:43950200-43951400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr10:43950200-43951400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:43950200-43951400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr10:43950200-43951400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:43950200-43951400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr10:43950200-43951400	Active TSS	Brain Germinal Matrix	brain
20	chr10:43950200-43951400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr10:43950200-43951400	Active TSS	Fetal Lung	lung
22	chr10:43950200-43951400	Active TSS	Left Ventricle	heart
23	chr10:43950200-43951400	Active TSS	Pancreas	Pancrea
24	chr10:43950200-43951400	Active TSS	Stomach Smooth Muscle	stomach
25	chr10:43950200-43951400	Active TSS	HSMM	muscle
26	chr10:43950200-43951400	Active TSS	NHLF	lung
27	chr10:43950200-43951600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr10:43950200-43951600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:43950200-43951600	Active TSS	Brain Angular Gyrus	brain
30	chr10:43950200-43951600	Active TSS	Colon Smooth Muscle	Colon
31	chr10:43950200-43951600	Active TSS	Fetal Heart	heart
32	chr10:43950200-43951600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr10:43950200-43951600	Active TSS	Rectal Smooth Muscle	rectum
34	chr10:43950200-43951800	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr10:43950200-43951800	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr10:43950200-43951800	Active TSS	Fetal Brain Female	brain
37	chr10:43950200-43951800	Active TSS	Psoas Muscle	Psoas
38	chr10:43950200-43952000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:43950200-43952200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr10:43950200-43952200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:43950400-43951400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr10:43950400-43951400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr10:43950400-43951400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:43950400-43951400	Active TSS	Primary T cells from cord blood	blood
45	chr10:43950400-43951400	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr10:43950400-43951400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr10:43950400-43951400	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr10:43950400-43951400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr10:43950400-43951400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr10:43950400-43951400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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