Variant report

Variant	rs10236043
Chromosome Location	chr7:121034683-121034684
allele	A/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	RCOR1	chr7:121034569-121035150	K562	blood:	n/a	n/a
2	MAZ	chr7:121034597-121035123	GM12878	blood:	n/a	n/a
3	CUX1	chr7:121034347-121035314	GM12878	blood:	n/a	n/a
4	IRF1	chr7:121034607-121035213	K562	blood:	n/a	chr7:121034749-121034760 chr7:121034748-121034760 chr7:121034749-121034759
5	MAFK	chr7:121034679-121035107	Hela-S3	cervix:	n/a	chr7:121034857-121034872
6	RUNX3	chr7:121034654-121035267	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:121034389-121035181	GM12891	blood:	n/a	n/a
8	NR2F2	chr7:121034678-121035282	K562	blood:	n/a	n/a
9	TEAD4	chr7:121034600-121035229	K562	blood:	n/a	n/a
10	MYC	chr7:121034510-121035233	K562	blood:	n/a	n/a
11	MAFK	chr7:121034671-121035036	IMR90	lung:	n/a	chr7:121034857-121034872
12	EP300	chr7:121034481-121035222	K562	blood:	n/a	n/a
13	IRF1	chr7:121034420-121035661	K562	blood:	n/a	chr7:121034749-121034760 chr7:121034748-121034760 chr7:121034749-121034759
14	POLR2A	chr7:121034459-121035217	HepG2	liver:	n/a	n/a
15	MAFF	chr7:121034583-121035081	K562	blood:	n/a	chr7:121034855-121034873
16	MAFK	chr7:121034677-121035047	HepG2	liver:	n/a	chr7:121034857-121034872
17	POLR2A	chr7:121034650-121035228	GM12891	blood:	n/a	n/a
18	POLR2A	chr7:121031072-121037039	K562	blood:	n/a	n/a
19	POLR2A	chr7:121034575-121036931	GM19099	blood:	n/a	n/a
20	POLR2A	chr7:121034372-121035275	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:121034414-121037239	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr7:121032402-121036821	GM12878	blood:	n/a	n/a
23	ATF2	chr7:121034605-121035325	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:121034262-121036939	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:121034406-121035237	GM12891	blood:	n/a	n/a
26	NR2F2	chr7:121034513-121037111	K562	blood:	n/a	n/a
27	EBF1	chr7:121034532-121035294	GM12878	blood:	n/a	n/a
28	JUND	chr7:121034585-121035233	K562	blood:	n/a	chr7:121034586-121034595 chr7:121034960-121034971
29	TBP	chr7:121034441-121035238	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:121034663-121035147	K562	blood:	n/a	n/a
31	CUX1	chr7:121034509-121035221	K562	blood:	n/a	n/a
32	UBTF	chr7:121034601-121035152	K562	blood:	n/a	n/a
33	ATF2	chr7:121034581-121035272	GM12878	blood:	n/a	n/a
34	CHD2	chr7:121034527-121035084	GM12878	blood:	n/a	n/a
35	CHD1	chr7:121033669-121036769	GM12878	blood:	n/a	chr7:121036306-121036316
36	MXI1	chr7:121034605-121035060	K562	blood:	n/a	n/a
37	TBL1XR1	chr7:121034146-121035270	K562	blood:	n/a	n/a
38	SMC3	chr7:121034648-121035092	GM12878	blood:	n/a	n/a
39	RCOR1	chr7:121034538-121035212	GM12878	blood:	n/a	n/a
40	MXI1	chr7:121034485-121035149	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:121033574-121035250	HCT-116	colon:	n/a	n/a
42	MAFK	chr7:121034674-121035166	K562	blood:	n/a	chr7:121034857-121034872
43	JUN	chr7:121034520-121035186	K562	blood:	n/a	chr7:121034586-121034595
44	EP300	chr7:121034544-121035242	GM12878	blood:	n/a	n/a
45	TBL1XR1	chr7:121034170-121035222	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:121034329..121037845-chrX:23092301..23095324,3	K562	blood:
2	chr7:121033106..121035000-chr7:121064896..121066806,2	K562	blood:
3	chr7:121024298..121027882-chr7:121032352..121035031,6	MCF-7	breast:

Variant related genes	Relation type
CYCSP19	TF binding region
ENSG00000174028	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10244034	0.90[AFR][1000 genomes]
rs10248073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13438125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1819052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2141361	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697182	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697183	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697184	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697185	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707523	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707524	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28620394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2952582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4262270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
2	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120979800-121034800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:120984200-121035000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:121005200-121035000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:121016000-121035400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:121016200-121035000	Weak transcription	Fetal Stomach	stomach
6	chr7:121016200-121035600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:121018000-121035400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:121018600-121034800	Weak transcription	Fetal Brain Female	brain
9	chr7:121018600-121034800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:121018600-121035600	Weak transcription	Gastric	stomach
11	chr7:121018800-121035400	Weak transcription	Placenta	Placenta
12	chr7:121020000-121035400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:121020200-121035000	Weak transcription	Thymus	Thymus
14	chr7:121024800-121035000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:121026200-121034800	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:121026200-121035000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:121026200-121035000	Weak transcription	Brain Anterior Caudate	brain
18	chr7:121026200-121035000	Weak transcription	Fetal Kidney	kidney
19	chr7:121026200-121035400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:121026200-121035600	Weak transcription	Left Ventricle	heart
21	chr7:121026200-121035800	Weak transcription	Spleen	Spleen
22	chr7:121026400-121034800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:121026600-121034800	Weak transcription	Adipose Nuclei	Adipose
24	chr7:121026600-121034800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:121026600-121035000	Weak transcription	HSMMtube	muscle
26	chr7:121026600-121035400	Weak transcription	Pancreas	Pancrea
27	chr7:121026600-121035600	Weak transcription	Aorta	Aorta
28	chr7:121027800-121034800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:121029400-121034800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:121030800-121035000	Weak transcription	Fetal Thymus	thymus
31	chr7:121030800-121035600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:121031200-121034800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:121031400-121034800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr7:121031400-121035000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:121031400-121035000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:121032200-121035400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:121032600-121035400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:121032600-121035400	Weak transcription	Lung	lung
39	chr7:121032800-121035000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:121033400-121034800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:121033400-121034800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:121033400-121034800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:121033400-121034800	Weak transcription	Fetal Muscle Leg	muscle
44	chr7:121033400-121035400	Weak transcription	Small Intestine	intestine
45	chr7:121033600-121035400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr7:121033600-121036600	Active TSS	Fetal Intestine Small	intestine
47	chr7:121033600-121036600	Active TSS	GM12878-XiMat	blood
48	chr7:121033800-121034800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:121033800-121035400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:121033800-121035400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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