Variant report

Variant	rs7947391
Chromosome Location	chr11:66186882-66186883
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	REST	chr11:66185311-66187067	HCT-116	colon:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
2	REST	chr11:66185438-66187296	H1-neurons	neurons:	n/a	chr11:66186345-66186354 chr11:66187278-66187291 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
3	REST	chr11:66185559-66187152	K562	blood:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
4	REST	chr11:66186877-66187021	K562	blood:	n/a	n/a
5	REST	chr11:66185535-66187243	Hela-S3	cervix:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
6	POLR2A	chr11:66186844-66186938	K562	blood:	n/a	n/a
7	REST	chr11:66185317-66187298	SK-N-SH	brain:	n/a	chr11:66186345-66186354 chr11:66187278-66187291 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
8	REST	chr11:66185061-66191343	A549	lung:	n/a	chr11:66188869-66188882 chr11:66189187-66189197 chr11:66188994-66189014 chr11:66189222-66189242 chr11:66189262-66189282 chr11:66189184-66189193 chr11:66186345-66186354 chr11:66189225-66189238 chr11:66189223-66189241 chr11:66187278-66187291 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66189267-66189276 chr11:66189262-66189271 chr11:66189179-66189199 chr11:66189180-66189198 chr11:66189262-66189282 chr11:66189185-66189199 chr11:66186343-66186356 chr11:66189262-66189282 chr11:66186339-66186353 chr11:66189179-66189199 chr11:66187575-66187588 chr11:66188260-66188270 chr11:66187425-66187438 chr11:66186343-66186356 chr11:66189268-66189282 chr11:66186339-66186359 chr11:66187735-66187742 chr11:66189179-66189199 chr11:66189263-66189281 chr11:66188874-66188884 chr11:66188867-66188885 chr11:66189222-66189242 chr11:66188248-66188266 chr11:66189228-66189242 chr11:66189222-66189242 chr11:66186339-66186359 chr11:66186339-66186359
9	REST	chr11:66185081-66191016	HL-60	blood:	n/a	chr11:66188869-66188882 chr11:66189187-66189197 chr11:66188994-66189014 chr11:66189222-66189242 chr11:66189262-66189282 chr11:66189184-66189193 chr11:66186345-66186354 chr11:66189225-66189238 chr11:66189223-66189241 chr11:66187278-66187291 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66189267-66189276 chr11:66189262-66189271 chr11:66189179-66189199 chr11:66189180-66189198 chr11:66189262-66189282 chr11:66189185-66189199 chr11:66186343-66186356 chr11:66189262-66189282 chr11:66186339-66186353 chr11:66189179-66189199 chr11:66187575-66187588 chr11:66188260-66188270 chr11:66187425-66187438 chr11:66186343-66186356 chr11:66189268-66189282 chr11:66186339-66186359 chr11:66187735-66187742 chr11:66189179-66189199 chr11:66189263-66189281 chr11:66188874-66188884 chr11:66188867-66188885 chr11:66189222-66189242 chr11:66188248-66188266 chr11:66189228-66189242 chr11:66189222-66189242 chr11:66186339-66186359 chr11:66186339-66186359
10	REST	chr11:66185318-66187484	PANC-1	pancreas:	n/a	chr11:66186345-66186354 chr11:66187278-66187291 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66187425-66187438 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
11	REST	chr11:66185441-66187611	ECC-1	luminal epithelium:	n/a	chr11:66186345-66186354 chr11:66187278-66187291 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66187575-66187588 chr11:66187425-66187438 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
12	REST	chr11:66185262-66187439	PFSK-1	brain:	n/a	chr11:66186345-66186354 chr11:66187278-66187291 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66187425-66187438 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
13	POLR2A	chr11:66186513-66190417	H1-neurons	neurons:	n/a	n/a
14	REST	chr11:66185220-66187276	PANC-1	pancreas:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
15	REST	chr11:66185401-66187140	PFSK-1	brain:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
16	REST	chr11:66185400-66187107	A549	lung:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
17	REST	chr11:66185206-66187473	PANC-1	pancreas:	n/a	chr11:66186345-66186354 chr11:66187278-66187291 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66187425-66187438 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
18	REST	chr11:66185488-66187209	Hela-S3	cervix:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
19	REST	chr11:66185512-66186963	H1-hESC	embryonic stem cell:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
20	REST	chr11:66185540-66186971	HL-60	blood:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
21	REST	chr11:66185146-66191187	PFSK-1	brain:	n/a	chr11:66188869-66188882 chr11:66189187-66189197 chr11:66188994-66189014 chr11:66189222-66189242 chr11:66189262-66189282 chr11:66189184-66189193 chr11:66186345-66186354 chr11:66189225-66189238 chr11:66189223-66189241 chr11:66187278-66187291 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66189267-66189276 chr11:66189262-66189271 chr11:66189179-66189199 chr11:66189180-66189198 chr11:66189262-66189282 chr11:66189185-66189199 chr11:66186343-66186356 chr11:66189262-66189282 chr11:66186339-66186353 chr11:66189179-66189199 chr11:66187575-66187588 chr11:66188260-66188270 chr11:66187425-66187438 chr11:66186343-66186356 chr11:66189268-66189282 chr11:66186339-66186359 chr11:66187735-66187742 chr11:66189179-66189199 chr11:66189263-66189281 chr11:66188874-66188884 chr11:66188867-66188885 chr11:66189222-66189242 chr11:66188248-66188266 chr11:66189228-66189242 chr11:66189222-66189242 chr11:66186339-66186359 chr11:66186339-66186359
22	REST	chr11:66185309-66186930	PANC-1	pancreas:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
23	REST	chr11:66185464-66187477	ECC-1	luminal epithelium:	n/a	chr11:66186345-66186354 chr11:66187278-66187291 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66187425-66187438 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
24	REST	chr11:66185418-66187213	MCF-7	breast:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
25	REST	chr11:66186809-66186942	PFSK-1	brain:	n/a	n/a
26	REST	chr11:66185665-66186947	GM12878	blood:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
27	REST	chr11:66185466-66187171	MCF-7	breast:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
28	REST	chr11:66185402-66191494	U87	brain:	n/a	chr11:66188869-66188882 chr11:66189187-66189197 chr11:66188994-66189014 chr11:66189222-66189242 chr11:66189262-66189282 chr11:66189184-66189193 chr11:66186345-66186354 chr11:66189225-66189238 chr11:66189223-66189241 chr11:66187278-66187291 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66189267-66189276 chr11:66189262-66189271 chr11:66189179-66189199 chr11:66189180-66189198 chr11:66189262-66189282 chr11:66189185-66189199 chr11:66186343-66186356 chr11:66189262-66189282 chr11:66186339-66186353 chr11:66189179-66189199 chr11:66187575-66187588 chr11:66188260-66188270 chr11:66187425-66187438 chr11:66186343-66186356 chr11:66189268-66189282 chr11:66186339-66186359 chr11:66187735-66187742 chr11:66189179-66189199 chr11:66189263-66189281 chr11:66188874-66188884 chr11:66188867-66188885 chr11:66189222-66189242 chr11:66188248-66188266 chr11:66189228-66189242 chr11:66189222-66189242 chr11:66186339-66186359 chr11:66186339-66186359
29	REST	chr11:66185402-66187062	U87	brain:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
30	REST	chr11:66185583-66187063	HepG2	liver:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359
31	REST	chr11:66185391-66187177	HCT-116	colon:	n/a	chr11:66186345-66186354 chr11:66186341-66186351 chr11:66186340-66186358 chr11:66186343-66186356 chr11:66186339-66186353 chr11:66186343-66186356 chr11:66186339-66186359 chr11:66186339-66186359 chr11:66186339-66186359

No.	Distal block	Cell Line	Cell type
1	chr11:66184788..66187226-chr11:66204894..66206549,2	K562	blood:
2	chr11:66184407..66187782-chr11:66232612..66234483,3	MCF-7	breast:
3	chr11:66186010..66188595-chr11:66189065..66192939,3	K562	blood:
4	chr11:66183845..66188748-chr11:66244741..66247932,5	MCF-7	breast:
5	chr11:66177353..66178934-chr11:66186708..66188933,2	K562	blood:
6	chr11:66183520..66189580-chr11:66204076..66208200,8	K562	blood:
7	chr11:66184399..66187254-chr11:66189910..66192629,2	MCF-7	breast:
8	chr11:66184274..66187220-chr11:66201977..66203892,2	K562	blood:
9	chr11:66050652..66053199-chr11:66185222..66187973,2	K562	blood:

Variant related genes	Relation type
NPAS4	TF binding region
ENSG00000174547	Chromatin interaction
ENSG00000174516	Chromatin interaction
ENSG00000174576	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000254510	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000255517	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10219183	0.82[CHD][hapmap]
rs11110	0.86[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1785640	0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2242663	0.84[JPT][hapmap]
rs2282640	0.92[JPT][hapmap]
rs2511220	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2511224	0.87[GIH][hapmap];0.92[JPT][hapmap]
rs2511225	0.80[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap]
rs4930376	0.83[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.97[MKK][hapmap]
rs610293	0.92[JPT][hapmap]
rs7123875	0.83[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.82[YRI][hapmap]
rs7951189	0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh 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

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7947391	KLC2	cis	parietal	SCAN
rs7947391	NUDT22	cis	cerebellum	SCAN
rs7947391	CST6	cis	cerebellum	SCAN
rs7947391	ZDHHC24	cis	cerebellum	SCAN
rs7947391	UNC93B1	cis	cerebellum	SCAN
rs7947391	NAALADL1	cis	parietal	SCAN
rs7947391	GAL3ST3	cis	parietal	SCAN
rs7947391	NDUFV1	cis	parietal	SCAN
rs7947391	POLR2G	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66183600-66187000	Enhancers	Left Ventricle	heart
2	chr11:66183600-66187200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr11:66183600-66188800	Enhancers	Right Atrium	heart
4	chr11:66184000-66189000	Enhancers	Right Ventricle	heart
5	chr11:66185000-66187000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr11:66185000-66187200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:66185000-66187400	Enhancers	Aorta	Aorta
8	chr11:66185000-66187400	Enhancers	Rectal Smooth Muscle	rectum
9	chr11:66185000-66188800	Enhancers	Colon Smooth Muscle	Colon
10	chr11:66185600-66187200	Bivalent Enhancer	Fetal Stomach	stomach
11	chr11:66185600-66187600	Enhancers	Fetal Heart	heart
12	chr11:66185600-66188000	Weak transcription	Brain Anterior Caudate	brain
13	chr11:66185800-66187000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr11:66185800-66187200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:66185800-66187600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
16	chr11:66186000-66187000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:66186000-66188600	Enhancers	Psoas Muscle	Psoas
18	chr11:66186000-66189000	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr11:66186200-66187000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr11:66186200-66187000	Bivalent Enhancer	Fetal Brain Female	brain
21	chr11:66186200-66187200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr11:66186400-66187000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr11:66186400-66187200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr11:66186400-66187600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:66186400-66187800	Weak transcription	Lung	lung
26	chr11:66186400-66188200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:66186600-66187000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr11:66186600-66187000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:66186600-66187000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:66186600-66187000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr11:66186600-66187000	Enhancers	Stomach Smooth Muscle	stomach
32	chr11:66186600-66187200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr11:66186600-66187200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:66186600-66187400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
35	chr11:66186600-66187600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:66186600-66187600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:66186600-66189200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr11:66186800-66187000	Weak transcription	Brain Angular Gyrus	brain
39	chr11:66186800-66187000	Bivalent Enhancer	Brain Germinal Matrix	brain
40	chr11:66186800-66187200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr11:66186800-66187200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
42	chr11:66186800-66187200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:66186800-66187400	Bivalent Enhancer	Colonic Mucosa	Colon
44	chr11:66186800-66187600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:66186800-66187600	Bivalent Enhancer	Fetal Brain Male	brain
46	chr11:66186800-66188600	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links