Variant report

Variant	rs11984263
Chromosome Location	chr7:96768413-96768414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr7:96768387-96768716	U2OS	brain:	n/a	n/a
2	POLR2A	chr7:96768143-96768419	A549	lung:	n/a	n/a
3	POLR2A	chr7:96768005-96769085	K562	blood:	n/a	n/a
4	KAP1	chr7:96768306-96768942	K562	blood:	n/a	n/a
5	SETDB1	chr7:96768284-96768813	K562	blood:	n/a	n/a
6	CBX3	chr7:96768250-96769041	K562	blood:	n/a	n/a
7	CBX3	chr7:96768373-96768762	K562	blood:	n/a	n/a
8	POLR2A	chr7:96768141-96768423	MCF-7	breast:	n/a	n/a
9	ELF1	chr7:96768144-96768466	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:96747720..96750174-chr7:96767579..96769561,2	K562	blood:
2	chr7:96722317..96724979-chr7:96765637..96768618,2	MCF-7	breast:
3	chr7:96767307..96769566-chr7:96804209..96806523,2	K562	blood:

No data

Variant related genes	Relation type
HMGB3P21	TF binding region
ACN9	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11971050	1.00[AFR][1000 genomes]
rs11978826	0.91[AFR][1000 genomes]
rs57083772	1.00[AFR][1000 genomes]
rs73708855	1.00[AFR][1000 genomes]
rs73708860	1.00[AFR][1000 genomes]
rs73708867	1.00[AFR][1000 genomes]
rs73708878	1.00[AFR][1000 genomes]

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	nsv1019725	chr7:96749866-96850819	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539029	chr7:96749866-96850819	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96760400-96796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:96762800-96768600	Weak transcription	Fetal Lung	lung
3	chr7:96764400-96773000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:96765000-96768600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:96765400-96772200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr7:96766000-96769800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr7:96766400-96769200	ZNF genes & repeats	Dnd41	blood
8	chr7:96766400-96773000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr7:96766600-96769600	ZNF genes & repeats	Primary B cells from cord blood	blood
10	chr7:96766600-96769800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:96766800-96772000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr7:96767000-96769200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:96767000-96769400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr7:96767000-96771000	Weak transcription	A549	lung
15	chr7:96767200-96768800	ZNF genes & repeats	Fetal Stomach	stomach
16	chr7:96767200-96769200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr7:96767200-96771600	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr7:96767400-96769000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:96767400-96771600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:96767600-96768600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:96767600-96768800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:96767600-96769800	ZNF genes & repeats	K562	blood
23	chr7:96767600-96770000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr7:96767800-96769200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:96767800-96769800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:96767800-96769800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
27	chr7:96768000-96768800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:96768000-96768800	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr7:96768000-96769000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:96768000-96769000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:96768000-96769000	ZNF genes & repeats	Ovary	ovary
32	chr7:96768000-96769000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
33	chr7:96768000-96769200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr7:96768000-96769200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:96768000-96769200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:96768000-96769200	ZNF genes & repeats	Liver	Liver
37	chr7:96768000-96769400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
38	chr7:96768000-96769600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr7:96768000-96769600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
40	chr7:96768000-96769600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
41	chr7:96768000-96769600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:96768000-96769600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr7:96768000-96769800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:96768000-96769800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
45	chr7:96768000-96769800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:96768200-96768600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:96768200-96768600	ZNF genes & repeats	Esophagus	oesophagus
48	chr7:96768200-96768600	ZNF genes & repeats	Gastric	stomach
49	chr7:96768200-96768600	ZNF genes & repeats	Pancreas	Pancrea
50	chr7:96768200-96768800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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