Variant report

Variant	rs11938970
Chromosome Location	chr4:119660152-119660153
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	chr4:119653222..119655642-chr4:119658116..119660847,2	K562	blood:

Variant related genes	Relation type
ENSG00000150961	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10002843	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11098451	1.00[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs11931194	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17257039	0.92[CEU][hapmap];0.91[AMR][1000 genomes]
rs17257945	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17258050	0.92[CEU][hapmap]
rs17258106	1.00[CEU][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17258830	0.92[CEU][hapmap];0.83[TSI][hapmap]
rs17258907	0.80[CEU][hapmap]
rs17323012	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17323034	0.92[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17323877	0.92[CEU][hapmap];0.83[TSI][hapmap]
rs17324807	0.89[CEU][hapmap]
rs17324821	0.88[CEU][hapmap]
rs17324884	0.92[CEU][hapmap]
rs17324968	0.92[CEU][hapmap];0.83[TSI][hapmap]
rs28595532	0.84[EUR][1000 genomes]
rs28600971	0.84[EUR][1000 genomes]
rs28627331	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41455648	1.00[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs55634130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56000725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56225646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389935	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58980398	0.81[AFR][1000 genomes]
rs60947885	0.81[AFR][1000 genomes]
rs73842212	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73842215	0.91[AFR][1000 genomes]
rs73842217	0.91[AFR][1000 genomes]
rs73842219	0.91[AFR][1000 genomes]
rs73843457	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach
3	chr4:119620000-119660200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
5	chr4:119630400-119674200	Weak transcription	A549	lung
6	chr4:119633200-119662800	Weak transcription	Brain Anterior Caudate	brain
7	chr4:119633400-119667600	Weak transcription	Brain Germinal Matrix	brain
8	chr4:119640600-119662200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr4:119640800-119692600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:119641600-119679800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:119642000-119661200	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:119642000-119662000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:119642000-119662000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr4:119642000-119666800	Strong transcription	Placenta	Placenta
15	chr4:119642200-119668200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr4:119642400-119662000	Strong transcription	Adipose Nuclei	Adipose
17	chr4:119642400-119662000	Strong transcription	Fetal Lung	lung
18	chr4:119642400-119668400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:119643000-119662000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:119644400-119662000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:119644400-119662000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:119644400-119667400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:119645400-119668200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:119646200-119662200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:119646200-119667000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:119646600-119662000	Strong transcription	GM12878-XiMat	blood
27	chr4:119647400-119660400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:119649200-119665200	Weak transcription	Small Intestine	intestine
29	chr4:119649200-119666800	Weak transcription	Psoas Muscle	Psoas
30	chr4:119649200-119670600	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:119649200-119675200	Weak transcription	Brain Substantia Nigra	brain
32	chr4:119649200-119687600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:119649200-119693600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:119649600-119664600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:119650600-119668400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:119651400-119664600	Weak transcription	Fetal Brain Male	brain
37	chr4:119651800-119665400	Strong transcription	HUVEC	blood vessel
38	chr4:119651800-119672600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr4:119651800-119687400	Weak transcription	Thymus	Thymus
40	chr4:119652000-119661600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:119652000-119672400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr4:119653200-119663800	Weak transcription	Esophagus	oesophagus
43	chr4:119653400-119668400	Strong transcription	HepG2	liver
44	chr4:119654200-119662400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:119654400-119660200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:119654400-119661200	Weak transcription	Fetal Thymus	thymus
47	chr4:119654400-119662400	Weak transcription	Fetal Heart	heart
48	chr4:119654400-119662600	Weak transcription	Gastric	stomach
49	chr4:119654400-119666200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:119654400-119672600	Strong transcription	NH-A	brain

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