Variant report

Variant	rs11023830
Chromosome Location	chr11:16040700-16040701
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	CTCF	chr11:16040620-16040770	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr11:16040620-16040770	HBMEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:16034951..16037801-chr11:16040174..16041965,2	K562	blood:
2	chr11:16032786..16036451-chr11:16039084..16041674,3	K562	blood:
3	chr11:16039156..16041121-chr11:16045276..16047949,2	K562	blood:

Variant related genes	Relation type
SOX6	TF binding region
ENSG00000254878	TF binding region
ENSG00000110693	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11023812	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11023839	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11023841	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11023843	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11023870	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12365963	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16932417	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16932443	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16932499	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16932565	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17536538	1.00[CEU][hapmap]
rs1878947	1.00[CEU][hapmap];1.00[YRI][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	nsv832074	chr11:15927105-16100772	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1045933	chr11:16023805-16067955	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16023800-16050400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:16024400-16067200	Weak transcription	Liver	Liver
3	chr11:16024800-16088200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:16034200-16079200	Weak transcription	Pancreas	Pancrea
5	chr11:16034800-16042800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:16035000-16057400	Weak transcription	Fetal Intestine Small	intestine
7	chr11:16036000-16041600	Weak transcription	Left Ventricle	heart
8	chr11:16036000-16042800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:16036000-16073800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:16037000-16041000	Enhancers	Fetal Lung	lung
11	chr11:16037400-16041600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:16037600-16041600	Weak transcription	Brain Anterior Caudate	brain
13	chr11:16037600-16081200	Weak transcription	Psoas Muscle	Psoas
14	chr11:16037800-16047600	Weak transcription	Fetal Intestine Large	intestine
15	chr11:16038200-16059200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:16038200-16065000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:16038200-16067200	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:16038600-16042000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:16038800-16043200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:16039000-16059000	Weak transcription	Aorta	Aorta
21	chr11:16039600-16041600	Weak transcription	Ovary	ovary
22	chr11:16039800-16053000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:16040000-16047400	Weak transcription	Brain Germinal Matrix	brain
24	chr11:16040400-16040800	Enhancers	Fetal Kidney	kidney
25	chr11:16040400-16042200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:16040600-16040800	Enhancers	Duodenum Mucosa	Duodenum
27	chr11:16040600-16040800	Enhancers	Fetal Brain Female	brain

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