Variant report

Variant	rs560242676
Chromosome Location	chr7:99767349-99767350
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr7:99766938-99767468	HepG2	liver:	n/a	n/a
2	FOXA1	chr7:99767000-99767381	HepG2	liver:	n/a	n/a
3	ZNF384	chr7:99767224-99767472	GM12878	blood:	n/a	n/a
4	ZNF384	chr7:99767251-99767365	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99765936..99768056-chr7:99933468..99935315,2	MCF-7	breast:
2	chr7:99722989..99725299-chr7:99765858..99767612,2	MCF-7	breast:
3	chr7:99767104..99770027-chr7:99772999..99775636,2	MCF-7	breast:
4	chr7:99697328..99700192-chr7:99766386..99767944,2	MCF-7	breast:
5	chr7:99767011..99769810-chr7:99997937..100000138,2	MCF-7	breast:
6	chr7:99752857..99757651-chr7:99763240..99770051,14	MCF-7	breast:
7	chr7:99749770..99752333-chr7:99765768..99768227,2	MCF-7	breast:
8	chr7:99755120..99757903-chr7:99766969..99769742,4	K562	blood:
9	chr7:99753295..99755968-chr7:99764966..99767548,3	K562	blood:
10	chr7:99767272..99770756-chr7:99771153..99775151,5	MCF-7	breast:

No data

Variant related genes	Relation type
GAL3ST4	TF binding region
ENSG00000188186	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000213420	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000242798	Chromatin interaction
ENSG00000242294	Chromatin interaction
ENSG00000272752	Chromatin interaction
ENSG00000214309	Chromatin interaction
ENSG00000121716	Chromatin interaction
ENSG00000066923	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000266154	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	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	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	nsv888773	chr7:99751594-99772298	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv971181	chr7:99757433-99769748	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
10	nsv5867	chr7:99766774-99799755	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99764600-99767400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr7:99765400-99768600	Weak transcription	Small Intestine	intestine
3	chr7:99766000-99768800	Weak transcription	Lung	lung
4	chr7:99766200-99768600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:99766200-99768800	Weak transcription	Gastric	stomach
6	chr7:99766200-99768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:99766200-99769000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:99766400-99768800	Weak transcription	Esophagus	oesophagus
9	chr7:99766400-99768800	Weak transcription	HMEC	breast
10	chr7:99766400-99770000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:99766600-99767400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:99766600-99767400	Enhancers	Brain Germinal Matrix	brain
13	chr7:99766600-99767400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:99766600-99767400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
15	chr7:99766600-99767600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:99766600-99767600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:99766600-99767600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:99766600-99767600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:99766600-99767800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:99766600-99767800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:99766600-99767800	Weak transcription	Brain Angular Gyrus	brain
22	chr7:99766600-99768000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr7:99766600-99768000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr7:99766600-99768200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:99766600-99768200	Enhancers	Dnd41	blood
26	chr7:99766600-99768400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:99766600-99768400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:99766600-99768400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:99766600-99768400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:99766600-99768400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr7:99766600-99768600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:99766600-99768600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:99766600-99768600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:99766600-99768600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:99766600-99768600	Weak transcription	HUVEC	blood vessel
36	chr7:99766600-99768800	Weak transcription	Aorta	Aorta
37	chr7:99766600-99768800	Weak transcription	Ovary	ovary
38	chr7:99766600-99768800	Weak transcription	Right Atrium	heart
39	chr7:99766600-99768800	Enhancers	GM12878-XiMat	blood
40	chr7:99766600-99769000	Enhancers	K562	blood
41	chr7:99766600-99769600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:99766600-99773800	Weak transcription	Hela-S3	cervix
43	chr7:99766800-99767400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr7:99766800-99767400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr7:99766800-99767400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:99766800-99767400	Enhancers	Duodenum Mucosa	Duodenum
47	chr7:99766800-99767600	Enhancers	Fetal Thymus	thymus
48	chr7:99766800-99767800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:99766800-99768000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:99766800-99768200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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