Variant report

Variant	rs11942670
Chromosome Location	chr4:88099987-88099988
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	chr4:88099435..88101886-chr4:88139410..88141295,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10516790	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs11932935	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11945120	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012461	0.81[YRI][hapmap]
rs17012488	0.81[YRI][hapmap]
rs6811473	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6815528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6821964	0.81[YRI][hapmap]
rs6822184	0.82[YRI][hapmap]
rs6846074	0.81[YRI][hapmap]
rs73837806	1.00[AMR][1000 genomes]
rs73837807	1.00[AMR][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	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88055200-88102800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:88058200-88109000	Weak transcription	Lung	lung
3	chr4:88059200-88100800	Weak transcription	Osteobl	bone
4	chr4:88061400-88109400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:88063200-88102000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:88064200-88100400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr4:88066200-88101000	Weak transcription	HMEC	breast
8	chr4:88068000-88116400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:88073400-88113000	Weak transcription	NHDF-Ad	bronchial
10	chr4:88074000-88100400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:88074200-88109400	Weak transcription	Pancreas	Pancrea
12	chr4:88074400-88100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:88077200-88111000	Weak transcription	Fetal Brain Male	brain
14	chr4:88080600-88101800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:88081800-88140200	Weak transcription	Aorta	Aorta
16	chr4:88082000-88111000	Weak transcription	Brain Germinal Matrix	brain
17	chr4:88082000-88129200	Weak transcription	Esophagus	oesophagus
18	chr4:88082600-88120000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:88082800-88106400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:88083000-88116400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr4:88084800-88113600	Weak transcription	HSMM	muscle
22	chr4:88085000-88100400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:88085000-88128000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:88085200-88100200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:88086400-88100600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:88086400-88102600	Weak transcription	HSMMtube	muscle
27	chr4:88086600-88109400	Weak transcription	NHLF	lung
28	chr4:88088800-88100800	Weak transcription	Spleen	Spleen
29	chr4:88089000-88108400	Weak transcription	Gastric	stomach
30	chr4:88089600-88113600	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:88089600-88131000	Weak transcription	Ovary	ovary
32	chr4:88089800-88106400	Weak transcription	GM12878-XiMat	blood
33	chr4:88089800-88115800	Weak transcription	HepG2	liver
34	chr4:88090000-88107800	Weak transcription	Placenta	Placenta
35	chr4:88090000-88118200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:88091200-88111600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:88091400-88102000	Weak transcription	Brain Angular Gyrus	brain
38	chr4:88091400-88102400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:88091400-88109000	Weak transcription	Fetal Lung	lung
40	chr4:88091400-88118200	Weak transcription	Brain Anterior Caudate	brain
41	chr4:88091800-88100400	Weak transcription	Fetal Thymus	thymus
42	chr4:88091800-88100600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr4:88091800-88101000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr4:88091800-88104400	Weak transcription	Dnd41	blood
45	chr4:88091800-88106600	Weak transcription	Right Ventricle	heart
46	chr4:88091800-88107600	Weak transcription	Thymus	Thymus
47	chr4:88091800-88115000	Weak transcription	Left Ventricle	heart
48	chr4:88091800-88128000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr4:88091800-88128600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:88091800-88133600	Weak transcription	Rectal Mucosa Donor 31	rectum

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