Variant report

Variant	rs41306916
Chromosome Location	chr10:5930763-5930764
allele	A/C
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	chr10:5930717-5931156	GM12892	blood:	n/a	n/a
2	MAX	chr10:5930268-5932989	HepG2	liver:	n/a	chr10:5932340-5932350
3	MXI1	chr10:5930179-5932450	IMR90	lung:	n/a	n/a
4	HEY1	chr10:5930487-5930793	HepG2	liver:	n/a	n/a
5	MAX	chr10:5930370-5932966	HepG2	liver:	n/a	chr10:5932340-5932350
6	POLR2A	chr10:5930349-5931084	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:5930342-5930771	HepG2	liver:	n/a	n/a
8	POLR2A	chr10:5930752-5931187	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr10:5929938-5933656	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr10:5930576-5932605	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr10:5930620-5930770	GM12873	blood:	n/a	n/a
12	POLR2A	chr10:5930492-5931178	MCF10A-Er-Src	breast:	n/a	n/a
13	REST	chr10:5930732-5932320	H1-neurons	neurons:	n/a	n/a
14	STAT5A	chr10:5930695-5931258	GM12878	blood:	n/a	n/a
15	TBP	chr10:5930521-5931074	HepG2	liver:	n/a	n/a
16	RUNX3	chr10:5930694-5931133	GM12878	blood:	n/a	n/a
17	POLR2A	chr10:5930749-5932457	GM12892	blood:	n/a	n/a
18	BHLHE40	chr10:5930389-5931229	HepG2	liver:	n/a	n/a
19	MAX	chr10:5930656-5933014	A549	lung:	n/a	chr10:5932340-5932350
20	MAX	chr10:5930399-5933314	K562	blood:	n/a	chr10:5932340-5932350
21	ZBTB7A	chr10:5930744-5932082	ECC-1	luminal epithelium:	n/a	chr10:5932026-5932035
22	HDAC2	chr10:5930604-5932242	MCF-7	breast:	n/a	n/a
23	CEBPB	chr10:5930378-5930839	K562	blood:	n/a	chr10:5930719-5930731
24	ELF1	chr10:5930714-5932784	GM12878	blood:	n/a	chr10:5932131-5932143 chr10:5932153-5932165 chr10:5932018-5932030
25	POLR2A	chr10:5930761-5931155	K562	blood:	n/a	n/a
26	POLR2A	chr10:5930289-5931260	GM12878	blood:	n/a	n/a
27	POLR2A	chr10:5930746-5933443	K562	blood:	n/a	n/a
28	RELA	chr10:5930441-5932361	GM15510	blood:	n/a	chr10:5931398-5931407 chr10:5931398-5931407
29	POLR2A	chr10:5930628-5932865	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr10:5930198-5933450	HepG2	liver:	n/a	n/a
31	TBP	chr10:5930615-5932410	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr10:5930632-5932933	GM18505	blood:	n/a	n/a
33	MAX	chr10:5930403-5932406	MCF-7	breast:	n/a	chr10:5932340-5932350
34	MTA3	chr10:5930118-5931295	GM12878	blood:	n/a	n/a
35	POLR2A	chr10:5930630-5932443	GM10847	blood:	n/a	n/a
36	MYBL2	chr10:5930200-5930813	HepG2	liver:	n/a	n/a
37	SIN3A	chr10:5930506-5932978	H1-hESC	embryonic stem cell:	n/a	chr10:5932704-5932715 chr10:5932156-5932167 chr10:5931663-5931672 chr10:5932779-5932788 chr10:5931969-5931980 chr10:5931781-5931794
38	RUNX3	chr10:5930360-5931190	GM12878	blood:	n/a	n/a
39	MAZ	chr10:5930138-5933189	IMR90	lung:	n/a	chr10:5932340-5932350
40	TEAD4	chr10:5930304-5930799	HepG2	liver:	n/a	n/a
41	CTCF	chr10:5930740-5930890	AG09319	gingival:	n/a	n/a
42	CTCF	chr10:5930760-5930910	NHEK	skin:	n/a	n/a
43	POLR2A	chr10:5930377-5932889	Raji	blood:	n/a	n/a
44	RCOR1	chr10:5930237-5932310	K562	blood:	n/a	n/a
45	POLR2A	chr10:5930488-5931295	HepG2	liver:	n/a	n/a
46	ZNF263	chr10:5929832-5932287	HEK293-T-REx	kidney:	n/a	n/a
47	POLR2A	chr10:5930268-5931214	HepG2	liver:	n/a	n/a
48	UBTF	chr10:5930332-5933289	K562	blood:	n/a	n/a
49	MXI1	chr10:5930417-5932848	HepG2	liver:	n/a	n/a
50	MAX	chr10:5930734-5931406	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5904346..5907644-chr10:5928919..5931742,3	MCF-7	breast:
2	chr10:5725094..5729377-chr10:5927689..5933777,6	MCF-7	breast:
3	chr10:5853532..5857435-chr10:5928623..5934190,13	MCF-7	breast:
4	chr10:5852595..5861125-chr10:5921136..5936216,31	MCF-7	breast:
5	chr10:5930398..5933295-chr10:6184026..6187985,3	K562	blood:
6	chr10:5929157..5931311-chr10:6018059..6019673,2	MCF-7	breast:
7	chr10:5930440..5932910-chr10:5957697..5960803,4	MCF-7	breast:
8	chr10:5853820..5856785-chr10:5927225..5934067,15	K562	blood:
9	chr10:5853439..5857708-chr10:5926443..5936823,24	K562	blood:
10	chr10:5488345..5491486-chr10:5930515..5933192,3	MCF-7	breast:

Variant related genes	Relation type
ANKRD16	TF binding region
FBXO18	TF binding region
ENSG00000057608	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000134470	Chromatin interaction
ENSG00000173848	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000240180	Chromatin interaction
ENSG00000170525	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11592964	1.00[AFR][1000 genomes]
rs11594153	1.00[AFR][1000 genomes]
rs11594794	0.97[ASN][1000 genomes]
rs11595457	1.00[AFR][1000 genomes]
rs11598581	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598865	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12357094	0.82[ASN][1000 genomes]
rs1512694	0.83[ASN][1000 genomes]
rs17146333	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17146580	0.89[ASN][1000 genomes]
rs17146587	0.97[ASN][1000 genomes]
rs17146629	0.97[ASN][1000 genomes]
rs1886057	0.82[ASN][1000 genomes]
rs2031230	0.97[ASN][1000 genomes]
rs2137422	1.00[AFR][1000 genomes]
rs2274026	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2274027	0.97[ASN][1000 genomes]
rs2274028	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274031	0.97[ASN][1000 genomes]
rs2274033	0.97[ASN][1000 genomes]
rs2296136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2296137	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296138	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34249852	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34455477	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3750656	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3750659	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41290311	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4749325	1.00[AFR][1000 genomes]
rs4749407	1.00[AFR][1000 genomes]
rs55718140	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56103646	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56213022	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56296494	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56333805	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56354230	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61834499	0.97[ASN][1000 genomes]
rs6602312	0.82[ASN][1000 genomes]
rs6602322	0.86[ASN][1000 genomes]
rs7072283	0.83[ASN][1000 genomes]
rs7893821	0.97[ASN][1000 genomes]
rs7899635	0.97[ASN][1000 genomes]
rs7899847	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902223	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7904512	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7904712	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7907053	0.82[ASN][1000 genomes]
rs7912210	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7913876	0.97[ASN][1000 genomes]
rs7918162	0.83[ASN][1000 genomes]
rs7919410	0.92[ASN][1000 genomes]
rs7919785	0.82[ASN][1000 genomes]
rs7923781	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	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
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv825229	chr10:5886905-5967697	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS 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	17 gene(s)	inside rSNPs	diseases
6	nsv466724	chr10:5920836-5938544	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	nsv549906	chr10:5920836-5938544	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
8	esv3389321	chr10:5930371-5933119	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 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	chr10:5929600-5930800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:5929800-5931000	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr10:5929800-5931200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:5930000-5930800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:5930000-5930800	Flanking Active TSS	Colon Smooth Muscle	Colon
6	chr10:5930000-5930800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr10:5930000-5930800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr10:5930000-5930800	Flanking Active TSS	Rectal Smooth Muscle	rectum
9	chr10:5930000-5931000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr10:5930000-5931000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:5930000-5931000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr10:5930000-5931000	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr10:5930000-5931000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:5930000-5931000	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr10:5930000-5931000	Flanking Active TSS	NHEK	skin
16	chr10:5930000-5931000	Flanking Active TSS	NHLF	lung
17	chr10:5930000-5931200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr10:5930000-5931200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr10:5930200-5930800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
20	chr10:5930200-5930800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:5930200-5930800	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr10:5930200-5930800	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr10:5930200-5930800	Flanking Active TSS	Fetal Heart	heart
24	chr10:5930200-5930800	Flanking Active TSS	Fetal Kidney	kidney
25	chr10:5930200-5930800	Flanking Active TSS	Left Ventricle	heart
26	chr10:5930200-5930800	Flanking Active TSS	Osteobl	bone
27	chr10:5930200-5931000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:5930200-5931000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:5930200-5931000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr10:5930200-5931000	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr10:5930200-5931000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:5930200-5931000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:5930200-5931000	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr10:5930200-5931000	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr10:5930200-5931000	Flanking Active TSS	Fetal Brain Male	brain
36	chr10:5930200-5931000	Flanking Active TSS	Fetal Brain Female	brain
37	chr10:5930200-5931000	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr10:5930200-5931000	Flanking Active TSS	Fetal Lung	lung
39	chr10:5930200-5931000	Flanking Active TSS	Right Ventricle	heart
40	chr10:5930200-5931000	Flanking Active TSS	NH-A	brain
41	chr10:5930200-5931000	Flanking Active TSS	NHDF-Ad	bronchial
42	chr10:5930200-5931200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr10:5930200-5931200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr10:5930200-5931200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:5930200-5931200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr10:5930200-5931200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr10:5930200-5931200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:5930200-5931200	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr10:5930200-5931200	Flanking Active TSS	Liver	Liver
50	chr10:5930200-5931200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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