Variant report

Variant	rs4148631
Chromosome Location	chr11:17435936-17435937
allele	C/T
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	TAL1	chr11:17435849-17436002	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17435065..17437385-chr11:17449381..17451000,2	MCF-7	breast:

Variant related genes	Relation type
ABCC8	TF binding region
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2355017	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148622	0.83[EUR][1000 genomes]
rs4148626	0.84[ASN][1000 genomes]
rs4148630	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148632	0.84[ASN][1000 genomes]
rs4757516	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs916829	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases
3	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17418600-17453600	Weak transcription	Fetal Brain Female	brain
2	chr11:17428200-17450200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:17430400-17439400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:17432000-17437400	Enhancers	Pancreas	Pancrea
5	chr11:17432600-17436600	Enhancers	Stomach Mucosa	stomach
6	chr11:17432800-17436200	Weak transcription	Right Ventricle	heart
7	chr11:17433400-17436200	Weak transcription	Left Ventricle	heart
8	chr11:17434000-17436400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:17434600-17436000	Enhancers	Fetal Intestine Small	intestine
10	chr11:17434800-17436400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr11:17434800-17440400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:17435000-17436000	Weak transcription	Fetal Lung	lung
13	chr11:17435000-17438600	Enhancers	Fetal Thymus	thymus
14	chr11:17435000-17440200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:17435000-17442000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:17435000-17442200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:17435000-17443200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:17435200-17436400	Flanking Active TSS	Dnd41	blood
19	chr11:17435200-17460600	Weak transcription	Right Atrium	heart
20	chr11:17435600-17436400	Enhancers	Primary T cells from cord blood	blood
21	chr11:17435800-17436000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:17435800-17436200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr11:17435800-17436200	Enhancers	K562	blood
24	chr11:17435800-17436400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:17435800-17436400	Enhancers	Colonic Mucosa	Colon
26	chr11:17435800-17437000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:17435800-17437000	Enhancers	Thymus	Thymus
28	chr11:17435800-17437400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr11:17435800-17437600	Enhancers	Gastric	stomach
30	chr11:17435800-17438800	Enhancers	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links