Variant report

Variant	rs1019895
Chromosome Location	chr4:187729614-187729615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187679224..187681324-chr4:187727859..187730858,2	K562	blood:
2	chr4:187720294..187722380-chr4:187728478..187730946,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9790767	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv880401	chr4:187668795-188047143	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv596441	chr4:187695564-187786316	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1019895	HELT	cis	cerebellum	SCAN
rs1019895	MLF1IP	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187726800-187729800	Enhancers	Liver	Liver
2	chr4:187727000-187730000	Enhancers	HepG2	liver
3	chr4:187727600-187730000	Enhancers	Fetal Kidney	kidney
4	chr4:187727600-187730400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:187728200-187730600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:187728600-187729800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:187729000-187730400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:187729000-187730800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:187729000-187730800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:187729000-187730800	Enhancers	HMEC	breast
11	chr4:187729200-187730600	Enhancers	HSMM	muscle
12	chr4:187729200-187730600	Enhancers	NHEK	skin
13	chr4:187729400-187729800	Flanking Active TSS	K562	blood
14	chr4:187729400-187730000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr4:187729400-187730800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:187729600-187729800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:187729600-187729800	Enhancers	Colon Smooth Muscle	Colon
18	chr4:187729600-187729800	Enhancers	NHLF	lung
19	chr4:187729600-187730000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:187729600-187730000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:187729600-187730000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:187729600-187730000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:187729600-187730000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr4:187729600-187730000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:187729600-187730000	Enhancers	Fetal Muscle Leg	muscle
26	chr4:187729600-187730000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr4:187729600-187730000	Enhancers	HSMMtube	muscle
28	chr4:187729600-187730000	Flanking Active TSS	NH-A	brain
29	chr4:187729600-187730000	Flanking Active TSS	Osteobl	bone
30	chr4:187729600-187730600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:187729600-187730600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:187729600-187730600	Enhancers	NHDF-Ad	bronchial

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