Variant report

Variant	rs11984728
Chromosome Location	chr8:10966044-10966045
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	CTCF	chr8:10966004-10966071	GM12878	blood:	n/a	chr8:10966022-10966040
2	CTCF	chr8:10966039-10966073	GM19238	blood:	n/a	n/a
3	CTCF	chr8:10965982-10966052	GM10248	blood:	n/a	chr8:10966022-10966040
4	CTCF	chr8:10965980-10966130	BE2_C	brain:	n/a	chr8:10966022-10966040
5	CTCF	chr8:10966012-10966080	GM19239	blood:	n/a	chr8:10966022-10966040
6	CTCF	chr8:10965940-10966090	GM12878	blood:	n/a	chr8:10966022-10966040
7	CTCF	chr8:10965982-10966079	K562	blood:	n/a	chr8:10966022-10966040

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AF131215.2.1-1	chr8:10964720-10967428	ENSG00000255310.1
2	lnc-AF131215.2.1-1	chr8:10965298-10967236	ENSG00000255310.2

Variant related genes	Relation type
ENSG00000269918	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11984987	0.94[ASN][1000 genomes]
rs11986294	0.88[ASN][1000 genomes]
rs28688244	0.94[ASN][1000 genomes]
rs28712616	0.94[ASN][1000 genomes]
rs6651507	0.88[ASN][1000 genomes]
rs7843934	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1026331	chr8:10955941-11046394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1027845	chr8:10959666-10995565	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10955200-10968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:10958200-10967200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:10958200-10970200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:10958400-10974800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:10958600-10971200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:10958600-10971200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:10958800-10967400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:10960400-10967000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:10960400-10968400	Weak transcription	Spleen	Spleen
10	chr8:10960800-10970800	Weak transcription	HSMM	muscle
11	chr8:10961200-10975400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:10961600-10970600	Weak transcription	Fetal Intestine Large	intestine
13	chr8:10961800-10968800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:10961800-10971400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:10962000-10968000	Weak transcription	GM12878-XiMat	blood
16	chr8:10962400-10967600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:10962400-10969600	Weak transcription	NH-A	brain
18	chr8:10963000-10981200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:10963200-10967200	Weak transcription	Primary T cells from cord blood	blood
20	chr8:10963200-10970400	Weak transcription	Primary B cells from cord blood	blood
21	chr8:10963400-10971400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:10963600-10966600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:10963600-10971200	Weak transcription	HSMMtube	muscle
24	chr8:10963600-10973600	Weak transcription	Lung	lung
25	chr8:10963600-10974800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:10964000-10967000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:10964200-10971400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:10964400-10966200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:10964400-10966800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:10964400-10967000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:10964600-10966200	Strong transcription	Fetal Intestine Small	intestine
32	chr8:10964800-10966200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:10964800-10966400	Strong transcription	Fetal Stomach	stomach
34	chr8:10964800-10966400	Strong transcription	Pancreas	Pancrea
35	chr8:10964800-10966600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:10964800-10967000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:10965000-10966200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:10965000-10966200	ZNF genes & repeats	Gastric	stomach
39	chr8:10965000-10967200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:10965200-10966400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:10965200-10966800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:10965400-10971400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:10965600-10970800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:10965600-10973600	Weak transcription	Esophagus	oesophagus
45	chr8:10965600-10974200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:10965800-10970800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:10965800-10971400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:10965800-10974400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:10965800-10981600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:10966000-10968600	Weak transcription	NHEK	skin

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