Variant report

Variant	rs183181389
Chromosome Location	chr7:100291702-100291703
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	YY1	chr7:100291009-100291978	K562	blood:	n/a	chr7:100291867-100291886 chr7:100291559-100291573 chr7:100291873-100291881 chr7:100291862-100291884 chr7:100291514-100291523
2	E2F1	chr7:100291340-100292204	Hela-S3	cervix:	n/a	chr7:100291512-100291522 chr7:100291534-100291546 chr7:100291514-100291523 chr7:100291416-100291426
3	YY1	chr7:100291694-100292109	ECC-1	luminal epithelium:	n/a	chr7:100291867-100291886 chr7:100291873-100291881 chr7:100291862-100291884
4	POLR2A	chr7:100291386-100292295	HUVEC	blood vessel:	n/a	n/a
5	MAX	chr7:100291057-100292390	HepG2	liver:	n/a	chr7:100291894-100291903 chr7:100291894-100291903 chr7:100292098-100292108 chr7:100291893-100291904 chr7:100291894-100291903 chr7:100291892-100291905
6	CREB1	chr7:100291702-100292332	A549	lung:	n/a	n/a
7	USF1	chr7:100291677-100292438	A549	lung:	n/a	chr7:100292015-100292031
8	POLR2A	chr7:100291589-100292128	MCF-7	breast:	n/a	n/a
9	USF1	chr7:100291678-100292394	SK-N-SH	brain:	n/a	chr7:100292015-100292031
10	MAX	chr7:100291695-100292542	HCT-116	colon:	n/a	chr7:100291894-100291903 chr7:100291894-100291903 chr7:100292098-100292108 chr7:100291893-100291904 chr7:100291894-100291903 chr7:100291892-100291905
11	SIN3AK20	chr7:100291054-100291750	K562	blood:	n/a	n/a
12	POLR2A	chr7:100291272-100292415	Hela-S3	cervix:	n/a	n/a
13	YY1	chr7:100291625-100292001	H1-hESC	embryonic stem cell:	n/a	chr7:100291867-100291886 chr7:100291873-100291881 chr7:100291862-100291884
14	POLR2A	chr7:100291008-100291921	K562	blood:	n/a	n/a
15	HA-E2F1	chr7:100291134-100292327	Hela-S3	cervix:	n/a	chr7:100291512-100291522 chr7:100291534-100291546 chr7:100291514-100291523 chr7:100291416-100291426 chr7:100291240-100291247
16	YY1	chr7:100291684-100291956	SK-N-SH_RA	brain:	n/a	chr7:100291867-100291886 chr7:100291873-100291881 chr7:100291862-100291884
17	FOXP2	chr7:100291596-100291934	PFSK-1	brain:	n/a	n/a
18	USF1	chr7:100291657-100292413	ECC-1	luminal epithelium:	n/a	chr7:100292015-100292031
19	CCNT2	chr7:100291240-100292343	K562	blood:	n/a	chr7:100291296-100291305 chr7:100292209-100292218
20	HCFC1	chr7:100291597-100292551	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr7:100291432-100292345	A549	lung:	n/a	n/a
22	HEY1	chr7:100291508-100291924	K562	blood:	n/a	chr7:100291838-100291853 chr7:100291606-100291621 chr7:100291610-100291625
23	POLR2A	chr7:100291503-100292121	A549	lung:	n/a	n/a
24	USF1	chr7:100291696-100292392	A549	lung:	n/a	chr7:100292015-100292031
25	POLR2A	chr7:100291677-100292383	GM18505	blood:	n/a	n/a
26	YY1	chr7:100291681-100292071	K562	blood:	n/a	chr7:100291867-100291886 chr7:100291873-100291881 chr7:100291862-100291884
27	YY1	chr7:100290950-100292338	K562	blood:	n/a	chr7:100291867-100291886 chr7:100291559-100291573 chr7:100291873-100291881 chr7:100291862-100291884 chr7:100291514-100291523
28	POLR2A	chr7:100291559-100292351	GM18951	blood:	n/a	n/a
29	MAX	chr7:100290877-100292512	K562	blood:	n/a	chr7:100291894-100291903 chr7:100291894-100291903 chr7:100292098-100292108 chr7:100291893-100291904 chr7:100291894-100291903 chr7:100291892-100291905
30	MAX	chr7:100291655-100292465	MCF-7	breast:	n/a	chr7:100291894-100291903 chr7:100291894-100291903 chr7:100292098-100292108 chr7:100291893-100291904 chr7:100291894-100291903 chr7:100291892-100291905
31	MAX	chr7:100291604-100292529	A549	lung:	n/a	chr7:100291894-100291903 chr7:100291894-100291903 chr7:100292098-100292108 chr7:100291893-100291904 chr7:100291894-100291903 chr7:100291892-100291905
32	POLR2A	chr7:100291651-100292266	Raji	blood:	n/a	n/a
33	YY1	chr7:100291666-100292328	GM12891	blood:	n/a	chr7:100291867-100291886 chr7:100291873-100291881 chr7:100291862-100291884
34	E2F6	chr7:100291452-100292320	K562	blood:	n/a	chr7:100291512-100291522 chr7:100291534-100291546 chr7:100291514-100291523
35	MAZ	chr7:100290904-100292535	IMR90	lung:	n/a	chr7:100291894-100291903 chr7:100291894-100291903 chr7:100292098-100292108 chr7:100291893-100291904 chr7:100291894-100291903 chr7:100291892-100291905
36	TAF1	chr7:100291701-100291942	SK-N-SH	brain:	n/a	n/a
37	E2F6	chr7:100291256-100292341	K562	blood:	n/a	chr7:100291512-100291522 chr7:100291534-100291546 chr7:100291514-100291523 chr7:100291416-100291426
38	EGR1	chr7:100291112-100291921	K562	blood:	n/a	chr7:100291361-100291375 chr7:100291360-100291373 chr7:100291275-100291285 chr7:100291760-100291774 chr7:100291358-100291368 chr7:100291360-100291373 chr7:100291363-100291372 chr7:100291360-100291373
39	YY1	chr7:100290877-100292351	HepG2	liver:	n/a	chr7:100291867-100291886 chr7:100291559-100291573 chr7:100291873-100291881 chr7:100291862-100291884 chr7:100291514-100291523
40	TAF1	chr7:100291369-100292295	HepG2	liver:	n/a	n/a
41	YY1	chr7:100291501-100291957	SK-N-SH_RA	brain:	n/a	chr7:100291867-100291886 chr7:100291559-100291573 chr7:100291873-100291881 chr7:100291862-100291884 chr7:100291514-100291523
42	EGR1	chr7:100291559-100291908	GM12878	blood:	n/a	chr7:100291760-100291774
43	POLR2A	chr7:100291544-100292137	HepG2	liver:	n/a	n/a
44	USF1	chr7:100291685-100291951	SK-N-SH_RA	brain:	n/a	n/a
45	POLR2A	chr7:100291284-100292336	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:100291525-100292227	HepG2	liver:	n/a	n/a
47	POLR2A	chr7:100291488-100292334	K562	blood:	n/a	n/a
48	USF1	chr7:100291676-100292465	ECC-1	luminal epithelium:	n/a	chr7:100292015-100292031
49	POLR2A	chr7:100291682-100292391	K562	blood:	n/a	n/a
50	POLR2A	chr7:100291480-100292288	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100289314..100293442-chr7:100296051..100298941,4	MCF-7	breast:
2	chr7:100144116..100146517-chr7:100289943..100291876,2	K562	blood:
3	chr7:100184159..100186286-chr7:100289610..100292155,2	MCF-7	breast:
4	chr7:100222794..100225924-chr7:100289657..100292852,4	MCF-7	breast:
5	chr7:100291635..100293380-chr7:100321369..100322955,2	MCF-7	breast:
6	chr7:100288992..100293891-chr7:100317292..100321001,4	MCF-7	breast:
7	chr7:100199658..100204753-chr7:100287607..100293733,10	K562	blood:
8	chr7:100289903..100293307-chr7:100301970..100305114,7	K562	blood:
9	chr7:100177845..100180104-chr7:100290366..100293709,4	MCF-7	breast:
10	chr7:100288252..100292867-chr7:100319528..100322364,4	K562	blood:
11	chr7:100287688..100293699-chr7:100300603..100306359,15	MCF-7	breast:
12	chr7:100031056..100033045-chr7:100289882..100292059,2	K562	blood:
13	chr6:26053433..26055851-chr7:100290372..100293044,2	MCF-7	breast:
14	chr7:100162910..100168606-chr7:100287546..100292436,6	MCF-7	breast:
15	chr7:100198433..100204411-chr7:100285757..100293733,14	K562	blood:
16	chr7:100080135..100081654-chr7:100290333..100292892,2	MCF-7	breast:
17	chr7:100254369..100255974-chr7:100290427..100292129,2	K562	blood:
18	chr7:100239190..100240878-chr7:100289804..100292344,2	MCF-7	breast:
19	chr7:100289903..100293628-chr7:100299918..100304988,11	K562	blood:
20	chr7:100208850..100211238-chr7:100289549..100292875,4	K562	blood:
21	chr7:100290034..100292271-chr7:100471770..100473597,2	MCF-7	breast:
22	chr7:100289891..100291847-chr7:100416190..100417802,2	K562	blood:
23	chr7:100197481..100201934-chr7:100289981..100293981,6	MCF-7	breast:
24	chr7:100025861..100030068-chr7:100288797..100293203,7	K562	blood:
25	chr7:100181942..100185382-chr7:100289663..100293010,6	K562	blood:
26	chr7:100290419..100293382-chr7:100421709..100425907,4	MCF-7	breast:
27	chr7:100025034..100028922-chr7:100288914..100292951,6	K562	blood:
28	chr7:100207033..100212293-chr7:100287661..100294075,8	MCF-7	breast:
29	chr7:100034415..100037250-chr7:100289483..100291820,2	MCF-7	breast:
30	chr7:100183057..100185845-chr7:100291476..100293682,3	MCF-7	breast:
31	chr7:100247255..100249496-chr7:100290650..100293134,2	K562	blood:
32	chr7:100179120..100183907-chr7:100289595..100293366,6	MCF-7	breast:
33	chr7:100291258..100294008-chr7:100480725..100482428,2	MCF-7	breast:
34	chr20:47894371..47895084-chr7:100291569..100292239,2	HCT-116	colon:
35	chr7:100288390..100292044-chr7:100484527..100487788,3	MCF-7	breast:

Variant related genes	Relation type
GIGYF1	TF binding region
ENSG00000176125	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000184414	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000130427	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000124201	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000106330	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv888792	chr7:100252918-100329189	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv888795	chr7:100266081-100298626	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	31 gene(s)	inside rSNPs	diseases
12	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	esv3405374	chr7:100290641-100293189	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
14	esv3438620	chr7:100290816-100293089	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
15	esv3436506	chr7:100291316-100292864	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100289800-100293600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:100290000-100293800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:100290400-100292600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:100290600-100291800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:100290600-100292400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr7:100290600-100292400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:100290600-100292400	Active TSS	Lung	lung
8	chr7:100290600-100292600	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:100290600-100292600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:100290600-100292600	Active TSS	Aorta	Aorta
11	chr7:100290600-100293600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr7:100290600-100294000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr7:100290800-100291800	Active TSS	Gastric	stomach
14	chr7:100290800-100292200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:100290800-100292200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:100290800-100292200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:100290800-100292200	Active TSS	Fetal Stomach	stomach
18	chr7:100290800-100292200	Active TSS	Osteobl	bone
19	chr7:100290800-100292400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:100290800-100292400	Active TSS	Muscle Satellite Cultured Cells	--
21	chr7:100290800-100292400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:100290800-100292400	Active TSS	Left Ventricle	heart
23	chr7:100290800-100292400	Active TSS	Ovary	ovary
24	chr7:100290800-100292400	Active TSS	Rectal Smooth Muscle	rectum
25	chr7:100290800-100292400	Active TSS	Thymus	Thymus
26	chr7:100290800-100292400	Active TSS	HepG2	liver
27	chr7:100290800-100292400	Active TSS	HSMM	muscle
28	chr7:100290800-100292400	Active TSS	HSMMtube	muscle
29	chr7:100290800-100292600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:100290800-100292600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr7:100290800-100292600	Active TSS	Brain Angular Gyrus	brain
32	chr7:100290800-100292600	Active TSS	Brain Anterior Caudate	brain
33	chr7:100290800-100292600	Active TSS	Brain Hippocampus Middle	brain
34	chr7:100290800-100292600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr7:100290800-100292600	Active TSS	Right Ventricle	heart
36	chr7:100290800-100294000	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr7:100291000-100292200	Active TSS	Fetal Muscle Leg	muscle
38	chr7:100291000-100292400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:100291000-100292400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:100291000-100292400	Active TSS	Psoas Muscle	Psoas
41	chr7:100291000-100292400	Active TSS	Small Intestine	intestine
42	chr7:100291000-100292600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:100291000-100292600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:100291000-100292600	Active TSS	Colon Smooth Muscle	Colon
45	chr7:100291000-100292600	Active TSS	Hela-S3	cervix
46	chr7:100291200-100291800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr7:100291200-100292200	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr7:100291200-100292200	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr7:100291200-100292200	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr7:100291200-100292200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links