Variant report

Variant	rs10269973
Chromosome Location	chr7:99845157-99845158
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	CEBPB	chr7:99843901-99845416	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr7:99845060-99845210	HEEpiC	esophagus:	n/a	n/a
3	FOSL2	chr7:99844854-99845299	MCF-7	breast:	n/a	chr7:99845098-99845106 chr7:99845099-99845106 chr7:99845098-99845106 chr7:99845097-99845107 chr7:99845097-99845108
4	USF1	chr7:99844752-99845434	A549	lung:	n/a	n/a
5	TBL1XR1	chr7:99845030-99845167	K562	blood:	n/a	n/a
6	REST	chr7:99844992-99845309	HepG2	liver:	n/a	chr7:99845249-99845262
7	MAFK	chr7:99844964-99845198	IMR90	lung:	n/a	chr7:99845096-99845106
8	JUND	chr7:99844937-99845308	HepG2	liver:	n/a	chr7:99845098-99845106 chr7:99845096-99845107 chr7:99845099-99845106 chr7:99845098-99845106 chr7:99845097-99845107
9	TCF12	chr7:99843771-99845544	A549	lung:	n/a	chr7:99844238-99844246
10	HMGN3	chr7:99845105-99845158	K562	blood:	n/a	n/a
11	JUND	chr7:99844795-99845355	Hela-S3	cervix:	n/a	chr7:99845098-99845106 chr7:99845096-99845107 chr7:99845099-99845106 chr7:99845098-99845106 chr7:99845097-99845107
12	MAX	chr7:99844737-99845383	Hela-S3	cervix:	n/a	chr7:99845097-99845106
13	TAF1	chr7:99844859-99845373	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr7:99845042-99845339	HepG2	liver:	n/a	chr7:99845119-99845131
15	FOXA1	chr7:99844838-99845390	HepG2	liver:	n/a	n/a
16	ZNF143	chr7:99844725-99845297	Hela-S3	cervix:	n/a	n/a
17	BCL3	chr7:99844681-99845389	A549	lung:	n/a	n/a
18	BCL3	chr7:99844746-99845410	A549	lung:	n/a	n/a
19	MAX	chr7:99844805-99845336	A549	lung:	n/a	chr7:99845097-99845106
20	ELF1	chr7:99844992-99845309	HepG2	liver:	n/a	n/a
21	FOXA1	chr7:99844988-99845340	T-47D	breast:	n/a	n/a
22	RAD21	chr7:99844780-99845388	H1-hESC	embryonic stem cell:	n/a	chr7:99845119-99845131
23	POLR2A	chr7:99844959-99845376	Hela-S3	cervix:	n/a	n/a
24	FOSL2	chr7:99844779-99845443	HepG2	liver:	n/a	chr7:99845098-99845106 chr7:99845099-99845106 chr7:99845098-99845106 chr7:99845097-99845107 chr7:99845097-99845108
25	HDAC2	chr7:99844962-99845347	K562	blood:	n/a	chr7:99845185-99845194
26	POLR2A	chr7:99844784-99845394	PANC-1	pancreas:	n/a	n/a
27	TCF12	chr7:99844771-99845478	SK-N-SH	brain:	n/a	n/a
28	RXRA	chr7:99844908-99845326	HepG2	liver:	n/a	n/a
29	NR3C1	chr7:99844781-99845358	A549	lung:	n/a	n/a
30	TCF7L2	chr7:99844777-99845393	Hela-S3	cervix:	n/a	chr7:99845098-99845107
31	TBP	chr7:99845031-99845304	H1-hESC	embryonic stem cell:	n/a	n/a
32	FOXA1	chr7:99844728-99845360	HepG2	liver:	n/a	n/a
33	MAFF	chr7:99845007-99845216	HepG2	liver:	n/a	chr7:99845089-99845107
34	GATA3	chr7:99844723-99845459	MCF-7	breast:	n/a	n/a
35	SP1	chr7:99844848-99845460	HepG2	liver:	n/a	n/a
36	MAX	chr7:99844839-99845240	H1-hESC	embryonic stem cell:	n/a	chr7:99845097-99845106
37	SMARCC1	chr7:99844793-99845330	Hela-S3	cervix:	n/a	chr7:99845098-99845107
38	EP300	chr7:99844987-99845196	HepG2	liver:	n/a	chr7:99845097-99845106 chr7:99845185-99845195
39	YY1	chr7:99844918-99845302	K562	blood:	n/a	n/a
40	TCF12	chr7:99844942-99845318	HepG2	liver:	n/a	n/a
41	SMARCB1	chr7:99844807-99845316	Hela-S3	cervix:	n/a	chr7:99845098-99845107
42	MAFK	chr7:99844820-99845326	Hela-S3	cervix:	n/a	chr7:99845096-99845106
43	EP300	chr7:99844853-99845346	ECC-1	luminal epithelium:	n/a	chr7:99845097-99845106 chr7:99845185-99845195
44	NR3C1	chr7:99844731-99845421	A549	lung:	n/a	n/a
45	POLR2A	chr7:99844777-99845388	H1-hESC	embryonic stem cell:	n/a	n/a
46	JUND	chr7:99844691-99845427	A549	lung:	n/a	chr7:99845098-99845106 chr7:99845096-99845107 chr7:99845099-99845106 chr7:99845098-99845106 chr7:99845097-99845107
47	POLR2A	chr7:99844697-99845467	H1-hESC	embryonic stem cell:	n/a	n/a
48	TAF1	chr7:99844952-99845447	H1-hESC	embryonic stem cell:	n/a	n/a
49	MBD4	chr7:99844941-99845273	HepG2	liver:	n/a	n/a
50	TFAP2A	chr7:99844847-99845408	Hela-S3	cervix:	n/a	chr7:99845098-99845107 chr7:99845097-99845106 chr7:99844938-99844953

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99844918..99846658-chr7:99861769..99864301,2	K562	blood:
2	chr7:99754140..99756334-chr7:99844492..99846727,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239521	TF binding region
ENSG00000146826	Chromatin interaction
ENSG00000266154	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10224352	0.92[AFR][1000 genomes]
rs10225636	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10245781	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10245955	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10257359	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261440	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10268724	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28559768	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57116449	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60568054	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
3	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
5	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv8182	chr7:99799816-99879781	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	esv16057	chr7:99809377-99937347	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv3379367	chr7:99811760-99938687	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3379649	chr7:99812207-99939196	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
13	esv3358931	chr7:99816130-99943645	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	esv3405423	chr7:99816156-99943860	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS 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	35 gene(s)	inside rSNPs	diseases
15	esv3508070	chr7:99816206-99943813	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv3508071	chr7:99816206-99943813	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	nsv981558	chr7:99836239-99870051	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99807200-99847000	Weak transcription	Fetal Kidney	kidney
2	chr7:99810600-99864000	Weak transcription	Right Atrium	heart
3	chr7:99813800-99846800	Weak transcription	Ovary	ovary
4	chr7:99821600-99867800	Weak transcription	Gastric	stomach
5	chr7:99823200-99862600	Weak transcription	Spleen	Spleen
6	chr7:99823800-99864200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:99829200-99860600	Weak transcription	Dnd41	blood
8	chr7:99831000-99845200	Weak transcription	Right Ventricle	heart
9	chr7:99831400-99864200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:99831600-99846000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:99831800-99853000	Weak transcription	Fetal Brain Female	brain
12	chr7:99832200-99846000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:99833000-99868600	Weak transcription	Primary T cells from cord blood	blood
14	chr7:99833200-99868600	Weak transcription	Thymus	Thymus
15	chr7:99838800-99845800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:99840000-99846000	Weak transcription	Brain Germinal Matrix	brain
17	chr7:99840200-99845200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:99840200-99863600	Weak transcription	Brain Anterior Caudate	brain
19	chr7:99841200-99846400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr7:99841400-99845200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:99841400-99847000	Enhancers	Fetal Muscle Leg	muscle
22	chr7:99841400-99864000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:99841600-99846000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:99841800-99845800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:99842000-99868400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:99842200-99845600	Weak transcription	Fetal Thymus	thymus
27	chr7:99842600-99846400	Enhancers	Placenta	Placenta
28	chr7:99842800-99846400	Enhancers	Fetal Muscle Trunk	muscle
29	chr7:99842800-99858200	Weak transcription	Brain Substantia Nigra	brain
30	chr7:99843200-99846400	Enhancers	HepG2	liver
31	chr7:99843400-99846000	Weak transcription	Psoas Muscle	Psoas
32	chr7:99843600-99845400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:99843800-99845400	Flanking Active TSS	Hela-S3	cervix
34	chr7:99843800-99845800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:99843800-99846400	Enhancers	K562	blood
36	chr7:99844000-99845200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:99844000-99845400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:99844000-99846200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:99844000-99846400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr7:99844000-99846400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:99844000-99847200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr7:99844200-99845400	Enhancers	HSMM	muscle
43	chr7:99844400-99846600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:99844600-99846200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:99844800-99845200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:99844800-99845200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr7:99844800-99845400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:99844800-99845400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:99844800-99845400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:99844800-99845400	Enhancers	Muscle Satellite Cultured Cells	--

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