Variant report

Variant	rs551708600
Chromosome Location	chr7:100144209-100144210
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	FOXM1	chr7:100142892-100144682	GM12878	blood:	n/a	n/a
2	SP1	chr7:100142612-100144569	A549	lung:	n/a	chr7:100143605-100143619 chr7:100143786-100143798 chr7:100143605-100143614 chr7:100143891-100143905 chr7:100143885-100143899
3	IKZF1	chr7:100142527-100145863	GM12878	blood:	n/a	chr7:100143306-100143314 chr7:100144832-100144840
4	POLR2A	chr7:100142560-100144317	HepG2	liver:	n/a	n/a
5	FOXA1	chr7:100143141-100144297	HepG2	liver:	n/a	chr7:100143918-100143933
6	RUNX3	chr7:100143885-100144932	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:100144015-100144770	GM12892	blood:	n/a	n/a
8	JUND	chr7:100142214-100144541	SK-N-SH	brain:	n/a	chr7:100143542-100143553 chr7:100143380-100143390 chr7:100143785-100143794 chr7:100143539-100143551 chr7:100143380-100143390 chr7:100143541-100143549 chr7:100143780-100143789 chr7:100143784-100143793 chr7:100142309-100142318 chr7:100143789-100143798 chr7:100142362-100142371 chr7:100143781-100143790 chr7:100143524-100143536
9	MBD4	chr7:100143147-100144367	HepG2	liver:	n/a	n/a
10	CEBPB	chr7:100143108-100144319	A549	lung:	n/a	n/a
11	TAF1	chr7:100144136-100144559	GM12878	blood:	n/a	n/a
12	TBL1XR1	chr7:100143976-100144988	GM12878	blood:	n/a	n/a
13	PBX3	chr7:100143082-100144212	SK-N-SH	brain:	n/a	n/a
14	SP1	chr7:100142521-100144355	HCT-116	colon:	n/a	chr7:100143605-100143619 chr7:100143786-100143798 chr7:100143605-100143614 chr7:100143891-100143905 chr7:100143885-100143899
15	MXI1	chr7:100143930-100144687	GM12878	blood:	n/a	n/a
16	JUN	chr7:100143188-100144280	HUVEC	blood vessel:	n/a	chr7:100143542-100143553 chr7:100143380-100143390 chr7:100143785-100143794 chr7:100143539-100143551 chr7:100143380-100143390 chr7:100143541-100143549 chr7:100143780-100143789 chr7:100143784-100143793 chr7:100143789-100143798 chr7:100143781-100143790 chr7:100143524-100143536
17	FOXA2	chr7:100143241-100144287	A549	lung:	n/a	n/a
18	MAZ	chr7:100144205-100144991	GM12878	blood:	n/a	n/a
19	ELF1	chr7:100143730-100144225	HepG2	liver:	n/a	n/a
20	RELA	chr7:100142701-100144476	GM19193	blood:	n/a	n/a
21	TCF12	chr7:100142618-100144682	A549	lung:	n/a	chr7:100143370-100143378
22	POLR2A	chr7:100144202-100144560	GM12891	blood:	n/a	n/a
23	FOXA2	chr7:100143209-100144387	HepG2	liver:	n/a	n/a
24	REST	chr7:100143755-100144292	HepG2	liver:	n/a	n/a
25	NFIC	chr7:100142953-100144660	HepG2	liver:	n/a	n/a
26	IRF1	chr7:100144110-100144787	K562	blood:	n/a	chr7:100144540-100144553 chr7:100144538-100144552 chr7:100144536-100144557 chr7:100144542-100144556 chr7:100144541-100144553 chr7:100144401-100144418 chr7:100144398-100144412 chr7:100144539-100144553 chr7:100144541-100144553 chr7:100144402-100144413 chr7:100144540-100144551 chr7:100144401-100144413 chr7:100144536-100144553 chr7:100144541-100144552
27	POLR2A	chr7:100142761-100144767	GM18505	blood:	n/a	n/a
28	SP1	chr7:100142517-100144554	A549	lung:	n/a	chr7:100143605-100143619 chr7:100143786-100143798 chr7:100143605-100143614 chr7:100143891-100143905 chr7:100143885-100143899
29	EP300	chr7:100143199-100144448	HepG2	liver:	n/a	chr7:100143781-100143797
30	SMC3	chr7:100144131-100144595	GM12878	blood:	n/a	n/a
31	RUNX3	chr7:100142855-100144964	GM12878	blood:	n/a	chr7:100142971-100142988
32	BHLHE40	chr7:100143934-100144533	GM12878	blood:	n/a	n/a
33	NR3C1	chr7:100143170-100144260	A549	lung:	n/a	chr7:100143691-100143707 chr7:100143692-100143706 chr7:100143845-100143852 chr7:100143669-100143683 chr7:100143604-100143617 chr7:100143691-100143708 chr7:100143381-100143390
34	FOSL2	chr7:100142651-100144428	A549	lung:	n/a	chr7:100143542-100143553 chr7:100143380-100143390 chr7:100143785-100143794 chr7:100143539-100143551 chr7:100143380-100143390 chr7:100143541-100143549 chr7:100143780-100143789 chr7:100143784-100143793 chr7:100143789-100143798 chr7:100143781-100143790 chr7:100143524-100143536
35	FOXA2	chr7:100143227-100144323	A549	lung:	n/a	n/a
36	MAX	chr7:100143076-100144384	HepG2	liver:	n/a	chr7:100143787-100143797 chr7:100143466-100143476 chr7:100143442-100143452
37	MYC	chr7:100144035-100144216	MCF10A-Er-Src	breast:	n/a	n/a
38	TBP	chr7:100144152-100144793	GM12878	blood:	n/a	n/a
39	TCF12	chr7:100143143-100144209	A549	lung:	n/a	chr7:100143370-100143378
40	MYC	chr7:100142779-100144441	A549	lung:	n/a	chr7:100143787-100143797 chr7:100143466-100143476 chr7:100143442-100143452
41	RCOR1	chr7:100143130-100144650	GM12878	blood:	n/a	n/a
42	HDAC2	chr7:100143253-100144258	HepG2	liver:	n/a	n/a
43	MBD4	chr7:100142908-100144595	HepG2	liver:	n/a	n/a
44	REST	chr7:100142971-100144547	A549	lung:	n/a	n/a
45	GATA2	chr7:100142861-100144347	HUVEC	blood vessel:	n/a	chr7:100142872-100142879 chr7:100142872-100142879 chr7:100143542-100143551 chr7:100142872-100142879 chr7:100142871-100142881 chr7:100144292-100144303
46	RELA	chr7:100141657-100145111	GM18505	blood:	n/a	n/a
47	MTA3	chr7:100140880-100145936	GM12878	blood:	n/a	n/a
48	MXI1	chr7:100143226-100144267	HepG2	liver:	n/a	n/a
49	ARID3A	chr7:100143215-100144723	HepG2	liver:	n/a	n/a
50	FOXA1	chr7:100143255-100144241	HepG2	liver:	n/a	chr7:100143918-100143933

No.	Distal block	Cell Line	Cell type
1	chr7:100143139..100144960-chr7:100210042..100212066,2	K562	blood:
2	chr7:100025881..100027667-chr7:100143251..100146330,4	MCF-7	breast:
3	chr7:100142201..100145553-chr7:100159344..100161288,4	K562	blood:
4	chr7:100140983..100146932-chr7:100182357..100186194,10	MCF-7	breast:
5	chr7:100144116..100146517-chr7:100289943..100291876,2	K562	blood:
6	chr7:100142335..100144694-chr7:100146748..100149510,3	K562	blood:
7	chr7:100142841..100146326-chr7:100160207..100163065,3	MCF-7	breast:
8	chr7:100142950..100145314-chr7:100161125..100163240,2	K562	blood:
9	chr7:100143245..100145713-chr7:100199778..100203079,3	MCF-7	breast:
10	chr7:100074335..100078343-chr7:100142686..100146158,4	K562	blood:
11	chr7:100143577..100145211-chr7:100180031..100182996,2	K562	blood:
12	chr7:100141487..100144211-chr7:100154594..100158320,3	MCF-7	breast:
13	chr7:100142903..100145091-chr7:100168075..100170895,2	MCF-7	breast:
14	chr7:100136291..100139067-chr7:100140246..100145508,4	MCF-7	breast:
15	chr7:100024941..100027622-chr7:100141781..100145026,4	K562	blood:
16	chr7:100143448..100145792-chr7:100271668..100273446,2	MCF-7	breast:
17	chr7:100025634..100027530-chr7:100143526..100145489,2	K562	blood:
18	chr7:100140502..100142594-chr7:100143525..100145435,2	K562	blood:
19	chr7:100067039..100069939-chr7:100143624..100146249,2	K562	blood:
20	chr7:100080527..100083060-chr7:100141951..100145813,4	MCF-7	breast:
21	chr7:100065337..100067606-chr7:100143752..100145766,2	MCF-7	breast:
22	chr7:100032414..100033926-chr7:100144081..100145594,2	K562	blood:
23	chr7:100030016..100034371-chr7:100142404..100146654,4	K562	blood:

Variant related genes	Relation type
AGFG2	TF binding region
ENSG00000160813	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
4	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
5	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
6	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
7	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
8	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
9	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv971157	chr7:100143688-100148402	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100137800-100146600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:100138000-100145400	Weak transcription	Primary B cells from cord blood	blood
3	chr7:100138000-100145400	Weak transcription	Fetal Brain Male	brain
4	chr7:100138000-100145400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:100138200-100146400	Weak transcription	Fetal Brain Female	brain
6	chr7:100138400-100146400	Weak transcription	Dnd41	blood
7	chr7:100139200-100144600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:100140000-100144400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:100140000-100145800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr7:100140000-100148000	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:100140400-100144600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:100140400-100145400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:100140400-100146200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:100140600-100144600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:100140600-100144800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:100140600-100145400	Weak transcription	Gastric	stomach
17	chr7:100140800-100145000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:100141000-100145800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:100141000-100145800	Flanking Active TSS	GM12878-XiMat	blood
20	chr7:100141000-100146000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:100141000-100146600	Enhancers	Brain Cingulate Gyrus	brain
22	chr7:100141200-100146200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:100141200-100146600	Enhancers	Small Intestine	intestine
24	chr7:100141400-100144600	Enhancers	Brain Angular Gyrus	brain
25	chr7:100141600-100144600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr7:100141600-100145400	Flanking Active TSS	A549	lung
27	chr7:100141600-100146200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr7:100141600-100146400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr7:100141600-100146600	Enhancers	Fetal Heart	heart
30	chr7:100141800-100144600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:100141800-100145400	Enhancers	Psoas Muscle	Psoas
32	chr7:100141800-100145600	Flanking Active TSS	Liver	Liver
33	chr7:100141800-100145600	Enhancers	Fetal Intestine Small	intestine
34	chr7:100141800-100145800	Enhancers	Fetal Intestine Large	intestine
35	chr7:100141800-100146200	Enhancers	Fetal Muscle Leg	muscle
36	chr7:100141800-100146400	Enhancers	Left Ventricle	heart
37	chr7:100141800-100146600	Enhancers	Adipose Nuclei	Adipose
38	chr7:100141800-100146600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:100141800-100147000	Enhancers	Right Atrium	heart
40	chr7:100141800-100147000	Enhancers	Stomach Mucosa	stomach
41	chr7:100142000-100145400	Enhancers	Fetal Thymus	thymus
42	chr7:100142000-100145800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr7:100142000-100146600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:100142000-100147000	Enhancers	Placenta	Placenta
45	chr7:100142200-100144400	Weak transcription	Esophagus	oesophagus
46	chr7:100142400-100144400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:100142400-100144600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr7:100142400-100144600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:100142400-100144600	Enhancers	HMEC	breast
50	chr7:100142400-100144800	Enhancers	Fetal Lung	lung

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