Variant report

Variant	rs181272
Chromosome Location	chr4:74903364-74903365
allele	A/G
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74902406..74903926-chr4:74946680..74949073,2	K562	blood:
2	chr4:74855916..74858178-chr4:74901845..74903855,2	K562	blood:
3	chr4:74902071..74908104-chr4:74918639..74927051,16	K562	blood:
4	chr4:74903038..74905484-chr4:74963526..74965321,3	K562	blood:
5	chr4:74874915..74877444-chr4:74902823..74905015,2	K562	blood:
6	chr4:74902434..74906647-chr4:74918639..74924896,12	K562	blood:
7	chr4:74902918..74906977-chr4:74963214..74968788,8	K562	blood:
8	chr4:74902531..74904905-chr4:74978906..74980803,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CXCL3-1	chr4:74902786-74904130	NONHSAT096879

No data

Variant related genes	Relation type
ENSG00000163738	Chromatin interaction
ENSG00000244194	Chromatin interaction
ENSG00000081041	Chromatin interaction
ENSG00000248848	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs352038	1.00[CEU][hapmap];0.80[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs352042	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][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	nsv967996	chr4:74902400-74920659	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74900000-74903600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:74900200-74903800	Weak transcription	Esophagus	oesophagus
3	chr4:74902200-74905200	Active TSS	A549	lung
4	chr4:74902600-74903400	Flanking Active TSS	HMEC	breast
5	chr4:74902600-74904200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:74902600-74905000	Active TSS	HSMM	muscle
7	chr4:74902600-74905200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr4:74902600-74905800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:74902800-74903400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:74902800-74903400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr4:74902800-74903400	Active TSS	NHLF	lung
12	chr4:74902800-74903600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:74902800-74903600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:74902800-74903600	Enhancers	Primary hematopoietic stem cells	blood
15	chr4:74902800-74903600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:74902800-74903600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:74902800-74903600	Active TSS	Fetal Stomach	stomach
18	chr4:74902800-74903600	Transcr. at gene 5' and 3'	K562	blood
19	chr4:74902800-74903600	Flanking Active TSS	NHDF-Ad	bronchial
20	chr4:74902800-74903600	Transcr. at gene 5' and 3'	NHEK	skin
21	chr4:74902800-74903800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:74902800-74903800	Enhancers	Brain Substantia Nigra	brain
23	chr4:74902800-74903800	Bivalent/Poised TSS	Psoas Muscle	Psoas
24	chr4:74902800-74904000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr4:74902800-74904000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:74902800-74904000	Flanking Active TSS	Osteobl	bone
27	chr4:74902800-74905000	Active TSS	Duodenum Mucosa	Duodenum
28	chr4:74902800-74905000	Active TSS	Hela-S3	cervix
29	chr4:74902800-74905200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr4:74902800-74905200	Active TSS	Right Atrium	heart
31	chr4:74902800-74905200	Active TSS	Right Ventricle	heart
32	chr4:74903000-74903400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr4:74903000-74903400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:74903000-74903400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:74903000-74903400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr4:74903000-74903400	Enhancers	Gastric	stomach
37	chr4:74903000-74903400	Active TSS	Left Ventricle	heart
38	chr4:74903000-74903400	Enhancers	HSMMtube	muscle
39	chr4:74903000-74903800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:74903000-74903800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:74903000-74903800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr4:74903000-74903800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr4:74903000-74904000	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr4:74903000-74904000	Flanking Active TSS	Fetal Thymus	thymus
45	chr4:74903000-74904800	Active TSS	H1 Cell Line	embryonic stem cell
46	chr4:74903000-74905000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:74903000-74905000	Active TSS	Lung	lung
48	chr4:74903000-74905000	Active TSS	Small Intestine	intestine
49	chr4:74903200-74903400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr4:74903200-74903400	Active TSS	H9 Cell Line	embryonic stem cell

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