Variant report

Variant	rs996857
Chromosome Location	chr11:16137084-16137085
allele	C/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	MAFF	chr11:16136556-16137307	HepG2	liver:	n/a	chr11:16136797-16136815
2	FOXA1	chr11:16136355-16137313	HepG2	liver:	n/a	n/a
3	HNF4A	chr11:16136901-16137391	HepG2	liver:	n/a	chr11:16137222-16137237
4	FOXA1	chr11:16136338-16137190	HepG2	liver:	n/a	n/a
5	HNF4A	chr11:16136998-16137332	HepG2	liver:	n/a	chr11:16137222-16137237
6	HNF4G	chr11:16137017-16137360	HepG2	liver:	n/a	chr11:16137221-16137236
7	JUND	chr11:16136577-16137397	HepG2	liver:	n/a	n/a
8	FOXA2	chr11:16136066-16137401	HepG2	liver:	n/a	chr11:16136324-16136336
9	NR2F2	chr11:16136407-16137361	HepG2	liver:	n/a	n/a
10	EP300	chr11:16136995-16137413	HepG2	liver:	n/a	n/a
11	RXRA	chr11:16136983-16137366	HepG2	liver:	n/a	n/a
12	EP300	chr11:16136592-16137341	HepG2	liver:	n/a	n/a
13	FOXA2	chr11:16136997-16137308	HepG2	liver:	n/a	n/a
14	SP1	chr11:16136910-16137405	HepG2	liver:	n/a	n/a
15	NFIC	chr11:16136346-16137435	HepG2	liver:	n/a	n/a
16	MAFK	chr11:16136619-16137327	HepG2	liver:	n/a	chr11:16136798-16136813
17	MYBL2	chr11:16136952-16137460	HepG2	liver:	n/a	n/a
18	EP300	chr11:16136948-16137407	HepG2	liver:	n/a	n/a
19	MAFK	chr11:16136608-16137338	HepG2	liver:	n/a	chr11:16136798-16136813
20	FOXA1	chr11:16136911-16137341	HepG2	liver:	n/a	n/a
21	NR2F2	chr11:16136410-16137414	HepG2	liver:	n/a	n/a
22	ARID3A	chr11:16136351-16137590	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:16130157..16133054-chr11:16135453..16138445,2	K562	blood:
2	chr11:16134325..16135863-chr11:16136123..16138157,2	K562	blood:
3	chr11:16133433..16135825-chr11:16136532..16138157,2	K562	blood:

Variant related genes	Relation type
SOX6	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12099169	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12099171	1.00[CEU][hapmap]
rs12099378	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs1455105	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs16924860	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs16932477	1.00[CEU][hapmap]
rs16932478	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16932480	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16932482	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs16932486	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16932493	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16932497	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16932507	1.00[CEU][hapmap]
rs16932558	1.00[CEU][hapmap]
rs16932582	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16932628	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs16932631	1.00[CEU][hapmap]
rs16932695	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16932698	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16932704	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4373881	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553562	chr11:16112180-16220289	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16133600-16138200	Enhancers	Liver	Liver
2	chr11:16133600-16138200	Weak transcription	Left Ventricle	heart
3	chr11:16133600-16138600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:16133800-16141600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:16133800-16146400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:16134000-16139800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:16134400-16139800	Weak transcription	Fetal Kidney	kidney
8	chr11:16134800-16138000	Enhancers	Stomach Mucosa	stomach
9	chr11:16134800-16139000	Weak transcription	Brain Germinal Matrix	brain
10	chr11:16135000-16137400	Enhancers	Fetal Intestine Small	intestine
11	chr11:16135200-16139400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:16135400-16137800	Enhancers	Fetal Intestine Large	intestine
13	chr11:16135800-16137200	Enhancers	Duodenum Mucosa	Duodenum
14	chr11:16135800-16137400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:16136000-16137400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:16136200-16137400	Enhancers	Adipose Nuclei	Adipose
17	chr11:16136400-16137400	Flanking Active TSS	HepG2	liver
18	chr11:16136400-16139600	Weak transcription	Fetal Lung	lung
19	chr11:16136800-16137200	Enhancers	Small Intestine	intestine
20	chr11:16136800-16144000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:16137000-16137200	Enhancers	Gastric	stomach
22	chr11:16137000-16137400	Enhancers	Fetal Muscle Leg	muscle
23	chr11:16137000-16137400	Enhancers	Pancreas	Pancrea
24	chr11:16137000-16137600	Enhancers	Psoas Muscle	Psoas

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