Variant report

Variant	rs192959671
Chromosome Location	chr4:675401-675402
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:672883..676399-chr4:697081..701106,5	MCF-7	breast:
2	chr4:658187..662144-chr4:672176..676426,5	MCF-7	breast:
3	chr4:646528..649301-chr4:675021..676814,2	MCF-7	breast:
4	chr4:595977..599927-chr4:674651..678190,4	MCF-7	breast:
5	chr4:675173..676793-chr4:777348..779688,2	MCF-7	breast:
6	chr4:674880..677107-chr4:756612..759495,2	MCF-7	breast:
7	chr4:671080..676330-chr4:771868..776883,7	K562	blood:

Variant related genes	Relation type
ENSG00000233799	Chromatin interaction
ENSG00000242686	Chromatin interaction
ENSG00000185619	Chromatin interaction
ENSG00000133256	Chromatin interaction
ENSG00000249592	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
9	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
14	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv878248	chr4:645300-685993	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv878249	chr4:649639-691026	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
18	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
19	nsv10413	chr4:667204-684301	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv593208	chr4:668000-682233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv878250	chr4:668567-683842	Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv878251	chr4:669857-683842	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv878252	chr4:669857-685993	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	esv3357523	chr4:674177-676725	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	esv3365960	chr4:674402-676900	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs192959671	RP11-1191J2.2	cis	Nerve Tibial	GTEx
rs192959671	RP11-1191J2.2	cis	lung	GTEx
rs192959671	RP11-1191J2.2	cis	Thyroid	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:673600-677400	Enhancers	Spleen	Spleen
2	chr4:674000-675800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:674000-675800	Enhancers	Lung	lung
4	chr4:674200-675800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr4:674200-678200	Enhancers	Esophagus	oesophagus
6	chr4:674600-675800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr4:674600-675800	Active TSS	NHEK	skin
8	chr4:674800-675800	Active TSS	Duodenum Mucosa	Duodenum
9	chr4:674800-675800	Active TSS	A549	lung
10	chr4:674800-676000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr4:674800-676000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:674800-676000	Active TSS	K562	blood
13	chr4:674800-676400	Weak transcription	Pancreas	Pancrea
14	chr4:675000-675600	Active TSS	Colonic Mucosa	Colon
15	chr4:675000-675800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr4:675000-675800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr4:675000-675800	Active TSS	Ovary	ovary
18	chr4:675000-675800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:675000-676000	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr4:675000-676000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr4:675000-676000	Active TSS	HepG2	liver
22	chr4:675000-677600	Weak transcription	Fetal Lung	lung
23	chr4:675000-680800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr4:675200-675600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr4:675200-675600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:675200-675600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:675200-675600	Enhancers	Fetal Intestine Large	intestine
28	chr4:675200-675600	Enhancers	Fetal Intestine Small	intestine
29	chr4:675200-675600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr4:675200-675600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
31	chr4:675200-675600	Active TSS	HMEC	breast
32	chr4:675200-675800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr4:675200-675800	Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr4:675200-675800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr4:675200-675800	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr4:675200-675800	Enhancers	Adipose Nuclei	Adipose
37	chr4:675200-675800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr4:675200-676000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr4:675200-676000	Enhancers	Fetal Muscle Trunk	muscle
40	chr4:675200-676200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:675200-676200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:675200-676200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr4:675200-676400	Weak transcription	Gastric	stomach
44	chr4:675200-676400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:675200-676800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr4:675200-676800	Weak transcription	Fetal Heart	heart
47	chr4:675200-677000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:675200-677000	Weak transcription	Brain Substantia Nigra	brain
49	chr4:675200-677200	Weak transcription	Liver	Liver
50	chr4:675200-677200	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links