Variant report

Variant	rs7913002
Chromosome Location	chr10:91134786-91134787
allele	G/T
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	ZNF384	chr10:91134520-91134906	K562	blood:	n/a	n/a
2	GATA1	chr10:91133912-91135158	K562	blood:	n/a	chr10:91134818-91134834 chr10:91134707-91134720 chr10:91134823-91134830 chr10:91134709-91134717 chr10:91134489-91134496 chr10:91134821-91134831 chr10:91134819-91134832 chr10:91134519-91134529 chr10:91134821-91134830
3	GATA2	chr10:91134556-91134885	K562	blood:	n/a	chr10:91134818-91134834 chr10:91134707-91134720 chr10:91134823-91134830 chr10:91134709-91134717 chr10:91134821-91134831 chr10:91134819-91134832 chr10:91134821-91134830
4	POLR2A	chr10:91134532-91134926	K562	blood:	n/a	n/a
5	GATA1	chr10:91134602-91134846	PBDEFetal	blood:	n/a	chr10:91134818-91134834 chr10:91134707-91134720 chr10:91134823-91134830 chr10:91134709-91134717 chr10:91134821-91134831 chr10:91134819-91134832 chr10:91134821-91134830
6	TBL1XR1	chr10:91133999-91134903	K562	blood:	n/a	n/a
7	CHD2	chr10:91134617-91134817	K562	blood:	n/a	n/a
8	ATF1	chr10:91134093-91134950	K562	blood:	n/a	n/a
9	MYC	chr10:91133992-91134996	K562	blood:	n/a	chr10:91134266-91134277
10	ZNF274	chr10:91134216-91134930	K562	blood:	n/a	n/a
11	CCNT2	chr10:91134089-91134932	K562	blood:	n/a	n/a
12	TEAD4	chr10:91134458-91135017	K562	blood:	n/a	n/a
13	TEAD4	chr10:91134473-91134991	K562	blood:	n/a	n/a
14	RCOR1	chr10:91133954-91135017	K562	blood:	n/a	n/a
15	HDAC2	chr10:91134523-91134852	K562	blood:	n/a	chr10:91134822-91134831
16	GATA2	chr10:91134526-91134973	K562	blood:	n/a	chr10:91134818-91134834 chr10:91134707-91134720 chr10:91134823-91134830 chr10:91134709-91134717 chr10:91134821-91134831 chr10:91134819-91134832 chr10:91134821-91134830
17	TRIM28	chr10:91134553-91134968	K562	blood:	n/a	n/a
18	MAX	chr10:91134555-91134892	K562	blood:	n/a	n/a
19	EP300	chr10:91133986-91135058	K562	blood:	n/a	chr10:91134517-91134531
20	STAT5A	chr10:91134441-91134943	K562	blood:	n/a	n/a
21	TAL1	chr10:91133962-91135096	K562	blood:	n/a	n/a
22	REST	chr10:91134575-91134788	K562	blood:	n/a	n/a
23	GATA1	chr10:91133688-91135118	PBDE	blood:	n/a	chr10:91134818-91134834 chr10:91134707-91134720 chr10:91134823-91134830 chr10:91134709-91134717 chr10:91134489-91134496 chr10:91134821-91134831 chr10:91134819-91134832 chr10:91134519-91134529 chr10:91134821-91134830
24	RCOR1	chr10:91134562-91135005	K562	blood:	n/a	n/a
25	POLR2A	chr10:91134623-91134838	K562	blood:	n/a	n/a
26	JUND	chr10:91133981-91135085	K562	blood:	n/a	n/a
27	GATA2	chr10:91134169-91135012	SH-SY5Y	brain:	n/a	chr10:91134818-91134834 chr10:91134707-91134720 chr10:91134823-91134830 chr10:91134709-91134717 chr10:91134489-91134496 chr10:91134821-91134831 chr10:91134819-91134832 chr10:91134519-91134529 chr10:91134821-91134830
28	CEBPB	chr10:91134632-91134880	K562	blood:	n/a	n/a
29	PML	chr10:91134534-91134855	K562	blood:	n/a	n/a
30	GABPA	chr10:91134651-91134840	K562	blood:	n/a	n/a
31	MYC	chr10:91134629-91134877	K562	blood:	n/a	n/a
32	MAZ	chr10:91134559-91134898	K562	blood:	n/a	n/a
33	ZMIZ1	chr10:91134487-91134906	K562	blood:	n/a	n/a
34	ZNF143	chr10:91134566-91134874	K562	blood:	n/a	n/a
35	POLR2A	chr10:91134597-91134862	K562	blood:	n/a	n/a
36	REST	chr10:91134578-91134850	K562	blood:	n/a	n/a
37	GATA3	chr10:91134484-91134903	SH-SY5Y	brain:	n/a	chr10:91134818-91134834 chr10:91134707-91134720 chr10:91134823-91134830 chr10:91134709-91134717 chr10:91134489-91134496 chr10:91134821-91134831 chr10:91134819-91134832 chr10:91134519-91134529 chr10:91134821-91134830
38	ARID3A	chr10:91134693-91134956	K562	blood:	n/a	n/a
39	PML	chr10:91134519-91134954	K562	blood:	n/a	n/a
40	POLR2A	chr10:91134563-91134843	K562	blood:	n/a	n/a
41	CEBPD	chr10:91134488-91134957	K562	blood:	n/a	n/a
42	HMGN3	chr10:91134591-91134893	K562	blood:	n/a	chr10:91134822-91134829
43	BHLHE40	chr10:91134544-91134952	K562	blood:	n/a	n/a
44	TBL1XR1	chr10:91134102-91134862	K562	blood:	n/a	n/a
45	NR2F2	chr10:91134515-91134900	K562	blood:	n/a	n/a
46	GATA2	chr10:91134082-91134972	K562	blood:	n/a	chr10:91134818-91134834 chr10:91134707-91134720 chr10:91134823-91134830 chr10:91134709-91134717 chr10:91134489-91134496 chr10:91134821-91134831 chr10:91134819-91134832 chr10:91134519-91134529 chr10:91134821-91134830
47	IRF1	chr10:91134543-91135005	K562	blood:	n/a	n/a
48	CEBPD	chr10:91134515-91134989	K562	blood:	n/a	n/a

Variant related genes	Relation type
IFIT1B	TF binding region

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

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

rs_ID	r²[population]
rs1041540	1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11203077	0.85[TSI][hapmap]
rs11203088	0.90[EUR][1000 genomes]
rs11203091	1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs11203097	0.90[EUR][1000 genomes]
rs11203100	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12241343	0.85[TSI][hapmap]
rs12249661	0.90[EUR][1000 genomes]
rs12249707	0.90[EUR][1000 genomes]
rs12263989	0.90[EUR][1000 genomes]
rs12264051	0.90[EUR][1000 genomes]
rs12266581	1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs12267943	0.90[EUR][1000 genomes]
rs12268333	0.90[ASN][1000 genomes]
rs1332332	0.85[TSI][hapmap]
rs17119665	0.85[TSI][hapmap]
rs17119672	0.85[TSI][hapmap]
rs17119790	0.85[TSI][hapmap]
rs2151008	0.90[EUR][1000 genomes]
rs4378299	0.85[TSI][hapmap]
rs6586191	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7067930	0.81[CHB][hapmap]
rs7079179	0.80[AFR][1000 genomes]
rs7090951	0.80[YRI][hapmap];0.83[AFR][1000 genomes]
rs7099668	0.85[TSI][hapmap]
rs7902096	0.85[TSI][hapmap]
rs7904924	0.85[TSI][hapmap]
rs7910157	0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs7911396	0.85[TSI][hapmap]

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	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1040375	chr10:91022218-91153074	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91129400-91138000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr10:91130600-91134800	Enhancers	Primary hematopoietic stem cells	blood
3	chr10:91130600-91135800	Enhancers	Liver	Liver
4	chr10:91130800-91135800	Enhancers	Fetal Heart	heart
5	chr10:91131000-91135400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:91131200-91135200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:91132400-91135000	Enhancers	Stomach Mucosa	stomach
8	chr10:91133000-91135000	Enhancers	Hela-S3	cervix
9	chr10:91133000-91135200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:91133000-91135400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr10:91133000-91135400	Enhancers	Fetal Intestine Small	intestine
12	chr10:91133200-91134800	Enhancers	Fetal Stomach	stomach
13	chr10:91133200-91134800	Enhancers	HSMM	muscle
14	chr10:91133200-91135000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:91133200-91135000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr10:91133200-91135000	Enhancers	Colonic Mucosa	Colon
17	chr10:91133200-91135000	Enhancers	Duodenum Mucosa	Duodenum
18	chr10:91133200-91135000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr10:91133200-91135200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr10:91133200-91135200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr10:91133200-91135200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr10:91133200-91135200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr10:91133200-91135200	Enhancers	Fetal Muscle Leg	muscle
24	chr10:91133200-91135200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr10:91133200-91135200	Enhancers	NHDF-Ad	bronchial
26	chr10:91133200-91135200	Enhancers	NHLF	lung
27	chr10:91133200-91135400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:91133200-91135400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:91133200-91135600	Enhancers	Fetal Intestine Large	intestine
30	chr10:91133200-91135800	Enhancers	Brain Substantia Nigra	brain
31	chr10:91133400-91134800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:91133400-91135000	Enhancers	Fetal Kidney	kidney
33	chr10:91133400-91135200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr10:91133600-91134800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:91133600-91135000	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr10:91133600-91135000	Enhancers	Right Ventricle	heart
37	chr10:91133600-91135000	Enhancers	HMEC	breast
38	chr10:91133800-91134800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:91133800-91134800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:91133800-91134800	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr10:91133800-91134800	Enhancers	NHEK	skin
42	chr10:91133800-91135000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:91133800-91135000	Enhancers	Psoas Muscle	Psoas
44	chr10:91133800-91135000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr10:91133800-91135000	Enhancers	Small Intestine	intestine
46	chr10:91133800-91135200	Enhancers	Aorta	Aorta
47	chr10:91133800-91135800	Enhancers	Pancreas	Pancrea
48	chr10:91134000-91134800	Enhancers	HUVEC	blood vessel
49	chr10:91134000-91135000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:91134000-91135000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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