Variant report

Variant	rs6817440
Chromosome Location	chr4:119727341-119727342
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	chr4:119726143..119727737-chr4:119729543..119731921,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11730728	0.81[CHB][hapmap]
rs11735989	0.83[YRI][hapmap]
rs13145450	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17324912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2288307	0.81[CHB][hapmap]
rs34371198	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34596379	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34742402	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35454727	0.88[ASN][1000 genomes]
rs35708799	0.82[ASN][1000 genomes]
rs35748313	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55877323	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67882376	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6814969	0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6827740	0.83[YRI][hapmap]
rs6853722	0.84[YRI][hapmap]
rs7670182	0.83[YRI][hapmap]
rs7681835	0.82[YRI][hapmap]

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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119688600-119732600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:119703400-119732200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr4:119703800-119738200	Strong transcription	Placenta	Placenta
4	chr4:119704200-119740000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:119704800-119735200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:119705200-119748200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:119707800-119730800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:119708000-119732800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:119712400-119739000	Strong transcription	Fetal Muscle Leg	muscle
10	chr4:119713800-119739600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr4:119714000-119738200	Strong transcription	Duodenum Mucosa	Duodenum
12	chr4:119714000-119739000	Strong transcription	HSMM	muscle
13	chr4:119714000-119739200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:119714400-119740200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:119714600-119729400	Strong transcription	HepG2	liver
16	chr4:119714600-119731000	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr4:119714600-119737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:119715200-119733800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:119715800-119734200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:119716200-119736000	Weak transcription	A549	lung
21	chr4:119716200-119738000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr4:119716400-119737200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:119716800-119731400	Strong transcription	NHLF	lung
24	chr4:119716800-119738600	Strong transcription	GM12878-XiMat	blood
25	chr4:119717400-119729400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:119717600-119737600	Strong transcription	Fetal Intestine Large	intestine
27	chr4:119718200-119735000	Weak transcription	Brain Anterior Caudate	brain
28	chr4:119718200-119739600	Weak transcription	Brain Germinal Matrix	brain
29	chr4:119718400-119734800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:119718400-119756000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:119718600-119730800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:119718600-119731000	Weak transcription	Brain Substantia Nigra	brain
33	chr4:119718600-119731800	Weak transcription	Brain Angular Gyrus	brain
34	chr4:119718600-119732000	Weak transcription	Fetal Kidney	kidney
35	chr4:119718600-119734200	Weak transcription	Fetal Brain Female	brain
36	chr4:119718600-119736200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:119718600-119744200	Weak transcription	Hela-S3	cervix
38	chr4:119718600-119753600	Weak transcription	Fetal Heart	heart
39	chr4:119719000-119756200	Weak transcription	Fetal Brain Male	brain
40	chr4:119719600-119737000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:119720600-119738200	Strong transcription	NH-A	brain
42	chr4:119721000-119730800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:119721200-119730400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:119721400-119730000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:119721800-119731000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:119722600-119737600	Strong transcription	HUVEC	blood vessel
47	chr4:119722800-119738600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:119723000-119729400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:119723000-119738000	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr4:119723200-119731800	Strong transcription	Adipose Nuclei	Adipose

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