Variant report

Variant	rs1644988
Chromosome Location	chr5:40797910-40797911
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173445697..173446417-chr5:40797910..40798503,2	Hela-S3	cervix:
2	chr14:23503156..23503982-chr5:40797904..40798767,2	NB4	blood:
3	chr5:40753118..40757884-chr5:40795999..40799979,7	MCF-7	breast:
4	chr5:40755012..40759487-chr5:40796000..40799940,8	K562	blood:
5	chr5:40796430..40799942-chr5:40831748..40836996,14	MCF-7	breast:
6	chr5:40797603..40798412-chr5:40834751..40835625,2	Hela-S3	cervix:
7	chr5:40796840..40798415-chr5:43016929..43019400,2	MCF-7	breast:
8	chr1:32109385..32110253-chr5:40797477..40798035,2	Hela-S3	cervix:
9	chr17:61850795..61851393-chr5:40797514..40798332,2	Hela-S3	cervix:
10	chr11:62608967..62609626-chr5:40797535..40798130,2	Hela-S3	cervix:
11	chr5:40754814..40759259-chr5:40796869..40798614,4	MCF-7	breast:
12	chr5:40771614..40774420-chr5:40796699..40798889,2	MCF-7	breast:
13	chr5:40752834..40759871-chr5:40793841..40803866,19	K562	blood:
14	chr5:40795843..40803356-chr5:40833207..40837160,32	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162517	Chromatin interaction
ENSG00000235790	Chromatin interaction
ENSG00000113638	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000117592	Chromatin interaction
ENSG00000100804	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000198231	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000108588	Chromatin interaction
ENSG00000212296	Chromatin interaction
ENSG00000132356	Chromatin interaction
ENSG00000145592	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56138995	1.00[AMR][1000 genomes]
rs837103	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881377	chr5:40753877-40810426	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
4	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40795800-40798600	Active TSS	GM12878-XiMat	blood
2	chr5:40795800-40800000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:40796200-40799600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:40796200-40799600	Active TSS	Fetal Intestine Large	intestine
5	chr5:40796400-40799200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr5:40796400-40800000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:40796400-40800000	Active TSS	NHLF	lung
8	chr5:40796600-40798000	Active TSS	Right Atrium	heart
9	chr5:40796600-40798800	Active TSS	Stomach Smooth Muscle	stomach
10	chr5:40796600-40799000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:40796600-40799000	Active TSS	Stomach Mucosa	stomach
12	chr5:40796600-40799000	Active TSS	NH-A	brain
13	chr5:40796600-40799200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:40796600-40799200	Active TSS	Fetal Brain Male	brain
15	chr5:40796600-40799200	Active TSS	Fetal Intestine Small	intestine
16	chr5:40796600-40799200	Active TSS	HSMMtube	muscle
17	chr5:40796600-40799400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:40796600-40799600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:40796600-40799600	Active TSS	Ovary	ovary
20	chr5:40796600-40799800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr5:40796600-40799800	Active TSS	Fetal Kidney	kidney
22	chr5:40796600-40800000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:40796600-40800400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr5:40796800-40798800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:40796800-40799000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:40796800-40799000	Active TSS	Rectal Smooth Muscle	rectum
27	chr5:40796800-40799200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:40796800-40799200	Active TSS	Aorta	Aorta
29	chr5:40796800-40799200	Active TSS	Fetal Muscle Leg	muscle
30	chr5:40796800-40799200	Active TSS	Psoas Muscle	Psoas
31	chr5:40796800-40799200	Active TSS	Right Ventricle	heart
32	chr5:40796800-40799400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:40796800-40799400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr5:40796800-40799400	Active TSS	Fetal Stomach	stomach
35	chr5:40796800-40799600	Active TSS	NHDF-Ad	bronchial
36	chr5:40797000-40798800	Active TSS	Placenta	Placenta
37	chr5:40797000-40799000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:40797000-40799000	Active TSS	Fetal Brain Female	brain
39	chr5:40797000-40799000	Active TSS	HSMM	muscle
40	chr5:40797000-40799200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:40797000-40799200	Active TSS	Colonic Mucosa	Colon
42	chr5:40797000-40799200	Active TSS	Fetal Muscle Trunk	muscle
43	chr5:40797000-40799200	Active TSS	Thymus	Thymus
44	chr5:40797000-40799400	Active TSS	K562	blood
45	chr5:40797000-40799800	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr5:40797000-40800000	Active TSS	H1 Cell Line	embryonic stem cell
47	chr5:40797200-40798600	Active TSS	Liver	Liver
48	chr5:40797200-40798800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:40797200-40798800	Active TSS	Small Intestine	intestine
50	chr5:40797200-40799000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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