Variant report

Variant	rs41294842
Chromosome Location	chr10:1034103-1034104
allele	C/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	CTCF	chr10:1034100-1034250	HCPEpiC	choroid plexus:	n/a	n/a
2	POLR2A	chr10:1034027-1034611	HepG2	liver:	n/a	n/a
3	HA-E2F1	chr10:1034046-1034686	MCF-7	breast:	n/a	chr10:1034302-1034311
4	MAX	chr10:1033523-1034913	HepG2	liver:	n/a	chr10:1034077-1034086
5	POLR2A	chr10:1033307-1034925	GM19193	blood:	n/a	n/a
6	MAZ	chr10:1034042-1034875	HepG2	liver:	n/a	chr10:1034077-1034086
7	IRF1	chr10:1033672-1034894	K562	blood:	n/a	chr10:1034302-1034311
8	POLR2A	chr10:1032891-1035077	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr10:1033955-1034712	HL-60	blood:	n/a	n/a
10	TAF1	chr10:1034096-1034575	GM12891	blood:	n/a	n/a
11	MAX	chr10:1033990-1035025	MCF-7	breast:	n/a	chr10:1034077-1034086
12	POLR2A	chr10:1033936-1034788	MCF-7	breast:	n/a	n/a
13	POU2F2	chr10:1034083-1034520	GM12878	blood:	n/a	n/a
14	CREB1	chr10:1033934-1034772	A549	lung:	n/a	n/a
15	SRF	chr10:1034006-1034569	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr10:1033438-1034909	PFSK-1	brain:	n/a	n/a
17	MAX	chr10:1033409-1034915	A549	lung:	n/a	chr10:1034077-1034086
18	CTCF	chr10:1034008-1034517	K562	blood:	n/a	chr10:1034472-1034485
19	JUND	chr10:1034094-1034275	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr10:1033718-1034928	GM12892	blood:	n/a	n/a
21	POLR2A	chr10:1033662-1034863	GM12878	blood:	n/a	n/a
22	CREB1	chr10:1034055-1034511	A549	lung:	n/a	n/a
23	PML	chr10:1033911-1034704	K562	blood:	n/a	n/a
24	SP1	chr10:1034085-1034676	GM12878	blood:	n/a	chr10:1034625-1034634
25	ZKSCAN1	chr10:1034084-1034724	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr10:1033632-1035197	A549	lung:	n/a	chr10:1034472-1034485
27	MAX	chr10:1033686-1035006	HepG2	liver:	n/a	chr10:1034077-1034086
28	TAF1	chr10:1033955-1034768	MCF-7	breast:	n/a	n/a
29	POLR2A	chr10:1033612-1034925	K562	blood:	n/a	n/a
30	ETS1	chr10:1033955-1034743	A549	lung:	n/a	chr10:1034316-1034325 chr10:1034026-1034039 chr10:1034316-1034325 chr10:1034317-1034327 chr10:1034625-1034636
31	TCF12	chr10:1034085-1034697	GM12878	blood:	n/a	n/a
32	NFIC	chr10:1033871-1034658	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr10:1034025-1035110	K562	blood:	n/a	n/a
34	CREB1	chr10:1034025-1034986	GM12878	blood:	n/a	n/a
35	POLR2A	chr10:1033838-1034833	HUVEC	blood vessel:	n/a	n/a
36	MAX	chr10:1033648-1035097	A549	lung:	n/a	chr10:1034077-1034086
37	MYBL2	chr10:1034051-1034733	HepG2	liver:	n/a	n/a
38	ELF1	chr10:1033987-1034852	SK-N-SH	brain:	n/a	chr10:1034314-1034325 chr10:1034314-1034325 chr10:1034315-1034324
39	SP2	chr10:1033976-1034570	HepG2	liver:	n/a	n/a
40	POLR2A	chr10:1033396-1034927	K562	blood:	n/a	n/a
41	SP1	chr10:1034025-1034515	K562	blood:	n/a	n/a
42	TAF1	chr10:1033934-1034895	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr10:1033171-1035101	HepG2	liver:	n/a	n/a
44	POLR2A	chr10:1034073-1034597	HepG2	liver:	n/a	n/a
45	MXI1	chr10:1034073-1034866	H1-hESC	embryonic stem cell:	n/a	n/a
46	BCLAF1	chr10:1033922-1034983	GM12878	blood:	n/a	chr10:1034579-1034592 chr10:1034316-1034325
47	MYC	chr10:1034063-1034881	MCF-7	breast:	n/a	chr10:1034077-1034086
48	RCOR1	chr10:1034040-1034676	GM12878	blood:	n/a	n/a
49	ZNF143	chr10:1033708-1034549	GM12878	blood:	n/a	n/a
50	GABPA	chr10:1033822-1035105	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:1030088..1034279-chr10:1100732..1103594,4	MCF-7	breast:
2	chr10:975309..980832-chr10:1031626..1035973,12	K562	blood:
3	chr10:1033990..1039615-chr10:1093691..1098446,7	MCF-7	breast:
4	chr10:1032470..1034485-chr10:1092422..1096343,5	MCF-7	breast:
5	chr10:1015043..1019353-chr10:1030351..1034278,6	MCF-7	breast:
6	chr10:1031887..1035944-chr10:1099515..1103666,8	MCF-7	breast:
7	chr10:1033868..1034831-chr2:114647091..114647827,2	HCT-116	colon:
8	chr10:974439..980732-chr10:1030011..1038533,28	MCF-7	breast:
9	chr10:976344..979673-chr10:1032747..1036349,14	K562	blood:
10	chr10:1033196..1035740-chr10:1100283..1103390,4	K562	blood:
11	chr10:1031711..1035740-chr10:1100728..1103796,4	K562	blood:
12	chr10:974636..980819-chr10:1029938..1037009,15	MCF-7	breast:

Variant related genes	Relation type
GTPBP4	TF binding region
ENSG00000107929	Chromatin interaction
ENSG00000047056	Chromatin interaction
ENSG00000229869	Chromatin interaction
ENSG00000067064	Chromatin interaction
ENSG00000270019	Chromatin interaction
ENSG00000115091	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17221428	0.83[AMR][1000 genomes]
rs17293615	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916591	chr10:224406-1088734	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer 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	41 gene(s)	inside rSNPs	diseases
7	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
10	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv540408	chr10:955835-1260680	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer 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 target site	39 gene(s)	inside rSNPs	diseases
13	esv2753756	chr10:985264-1052950	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1050577	chr10:986723-1277854	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv540409	chr10:986723-1277854	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv949405	chr10:1010464-1376105	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv1048254	chr10:1016006-1146595	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
18	esv1812809	chr10:1021156-1051728	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
19	esv1813158	chr10:1021156-1062915	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
20	esv1831483	chr10:1021156-1062915	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
21	nsv1040178	chr10:1024910-1126104	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
22	nsv540410	chr10:1024910-1126104	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1032800-1034200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:1033000-1034200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:1033000-1035200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:1033000-1035400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr10:1033000-1035400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr10:1033200-1035200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:1033200-1035400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr10:1033200-1035400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:1033200-1035400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr10:1033200-1036000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr10:1033400-1034200	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr10:1033400-1035000	Active TSS	Aorta	Aorta
13	chr10:1033400-1035200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:1033400-1035200	Active TSS	Fetal Kidney	kidney
15	chr10:1033400-1035200	Active TSS	Fetal Thymus	thymus
16	chr10:1033400-1035400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:1033400-1036200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr10:1033600-1035000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:1033600-1035000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr10:1033600-1035000	Active TSS	Brain Cingulate Gyrus	brain
21	chr10:1033600-1035000	Active TSS	Fetal Stomach	stomach
22	chr10:1033600-1035000	Active TSS	Gastric	stomach
23	chr10:1033600-1035000	Active TSS	Placenta Amnion	Placenta Amnion
24	chr10:1033600-1035000	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr10:1033600-1035200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:1033600-1035200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:1033600-1035200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:1033600-1035200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:1033600-1035200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr10:1033600-1035200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:1033600-1035200	Active TSS	Left Ventricle	heart
32	chr10:1033600-1035200	Active TSS	Lung	lung
33	chr10:1033600-1035200	Active TSS	Ovary	ovary
34	chr10:1033600-1035200	Active TSS	Pancreas	Pancrea
35	chr10:1033600-1035200	Active TSS	Psoas Muscle	Psoas
36	chr10:1033600-1035200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr10:1033600-1035200	Active TSS	Right Ventricle	heart
38	chr10:1033600-1035200	Active TSS	Stomach Mucosa	stomach
39	chr10:1033600-1035400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:1033600-1035400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr10:1033600-1035400	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr10:1033600-1035400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:1033600-1035400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr10:1033600-1035400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr10:1033600-1035400	Active TSS	Brain Hippocampus Middle	brain
46	chr10:1033600-1035400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr10:1033600-1035400	Active TSS	Fetal Intestine Large	intestine
48	chr10:1033600-1035400	Active TSS	Right Atrium	heart
49	chr10:1033600-1035400	Bivalent/Poised TSS	HepG2	liver
50	chr10:1033600-1035400	Active TSS	HSMM	muscle

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