Variant report

Variant	rs9991321
Chromosome Location	chr4:74960770-74960771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74959793..74961417-chr4:75022986..75025199,2	K562	blood:
2	chr4:74528490..74531153-chr4:74959832..74962104,3	K562	blood:
3	chr4:74938756..74940884-chr4:74959719..74961635,2	K562	blood:
4	chr4:74733760..74735538-chr4:74959861..74961774,2	K562	blood:
5	chr4:74902606..74907681-chr4:74959689..74962985,6	K562	blood:
6	chr4:74917692..74925936-chr4:74958187..74967502,26	K562	blood:
7	chr4:74959793..74962178-chr4:75023008..75025199,2	K562	blood:
8	chr4:74918446..74926481-chr4:74958079..74968779,32	K562	blood:
9	chr4:74869487..74871064-chr4:74960649..74962614,2	K562	blood:
10	chr4:74902606..74909435-chr4:74957858..74963020,9	K562	blood:
11	chr4:74913657..74916615-chr4:74960329..74961922,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269559	Chromatin interaction
ENSG00000163739	Chromatin interaction
ENSG00000163738	Chromatin interaction
ENSG00000163734	Chromatin interaction
ENSG00000248848	Chromatin interaction

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

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

rs_ID	r²[population]
rs10032162	1.00[AFR][1000 genomes]
rs10032694	1.00[AFR][1000 genomes]
rs28513957	0.83[AFR][1000 genomes]
rs28576753	1.00[AFR][1000 genomes]
rs28639814	1.00[AFR][1000 genomes]
rs28655443	1.00[AFR][1000 genomes]
rs28730399	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3443825	chr4:74903785-74964443	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74954800-74963800	Weak transcription	HSMMtube	muscle
2	chr4:74958000-74962000	Enhancers	Primary hematopoietic stem cells	blood
3	chr4:74958200-74962800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr4:74958400-74961000	Enhancers	HUVEC	blood vessel
5	chr4:74958400-74963400	Enhancers	Fetal Intestine Large	intestine
6	chr4:74958800-74964200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:74959000-74962400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:74959000-74963800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:74959200-74960800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:74959400-74963400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:74959400-74963400	Weak transcription	Stomach Mucosa	stomach
12	chr4:74959400-74963400	Weak transcription	NHEK	skin
13	chr4:74959600-74962200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:74959600-74962400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:74959600-74962400	Weak transcription	HMEC	breast
16	chr4:74959800-74963200	Weak transcription	Pancreas	Pancrea
17	chr4:74959800-74963400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:74960000-74960800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr4:74960000-74961200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:74960000-74963400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:74960000-74963400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:74960200-74962800	Weak transcription	A549	lung
23	chr4:74960200-74963200	Weak transcription	Lung	lung
24	chr4:74960200-74963400	Weak transcription	Gastric	stomach
25	chr4:74960200-74964400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:74960400-74961400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:74960400-74962800	Weak transcription	Right Atrium	heart
28	chr4:74960400-74963000	Weak transcription	Psoas Muscle	Psoas
29	chr4:74960400-74963000	Weak transcription	Hela-S3	cervix
30	chr4:74960400-74963400	Weak transcription	Spleen	Spleen
31	chr4:74960400-74963400	Weak transcription	Dnd41	blood
32	chr4:74960400-74963600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr4:74960400-74963600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:74960600-74961000	Weak transcription	Fetal Intestine Small	intestine
35	chr4:74960600-74962200	Weak transcription	K562	blood
36	chr4:74960600-74963000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:74960600-74963000	Weak transcription	Monocytes-CD14+_RO01746	blood

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