Variant report

Variant	rs72967717
Chromosome Location	chr4:160213110-160213111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10034409	1.00[EUR][1000 genomes]
rs11946474	1.00[EUR][1000 genomes]
rs2464794	1.00[EUR][1000 genomes]
rs28755457	1.00[EUR][1000 genomes]
rs28883584	1.00[EUR][1000 genomes]
rs2952610	1.00[EUR][1000 genomes]
rs57147050	1.00[EUR][1000 genomes]
rs57299850	1.00[EUR][1000 genomes]
rs57659423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57696778	1.00[EUR][1000 genomes]
rs60646338	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61498926	1.00[EUR][1000 genomes]
rs72965979	1.00[EUR][1000 genomes]
rs72967707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967714	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967780	1.00[EUR][1000 genomes]
rs72967798	1.00[EUR][1000 genomes]
rs7664778	1.00[EUR][1000 genomes]
rs7679267	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7691182	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9685433	1.00[EUR][1000 genomes]

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	nsv830129	chr4:160061694-160270760	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1022771	chr4:160188801-160324683	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160149400-160216800	Weak transcription	Small Intestine	intestine
2	chr4:160173200-160217400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:160186800-160225400	Weak transcription	Primary B cells from cord blood	blood
4	chr4:160189400-160235200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:160193400-160240200	Weak transcription	Gastric	stomach
6	chr4:160194400-160235600	Weak transcription	Fetal Stomach	stomach
7	chr4:160194400-160236600	Weak transcription	Primary T cells from cord blood	blood
8	chr4:160195200-160225600	Weak transcription	Placenta	Placenta
9	chr4:160200600-160235600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:160201800-160217200	Weak transcription	GM12878-XiMat	blood
11	chr4:160203600-160216600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:160205200-160216600	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:160205400-160214800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:160205400-160218200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:160205400-160219000	Weak transcription	Fetal Intestine Small	intestine
16	chr4:160205600-160217600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:160205800-160213200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:160205800-160213200	Weak transcription	Left Ventricle	heart
19	chr4:160205800-160236400	Weak transcription	Pancreas	Pancrea
20	chr4:160205800-160260600	Weak transcription	Aorta	Aorta
21	chr4:160206200-160214600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:160206200-160215000	Weak transcription	Right Ventricle	heart
23	chr4:160206200-160229000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:160207800-160217600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:160208000-160213400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:160209800-160217800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:160210000-160216800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:160210000-160217800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:160210000-160229200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:160210200-160213600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:160210200-160214800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr4:160210200-160217200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:160210400-160214800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:160210600-160225400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr4:160210600-160238000	Weak transcription	Adipose Nuclei	Adipose
36	chr4:160210800-160213600	Enhancers	Psoas Muscle	Psoas
37	chr4:160210800-160226000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:160211000-160213800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:160211000-160217200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:160211200-160213600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:160211200-160217800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:160211400-160214600	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:160211600-160215800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:160211800-160213200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:160211800-160214800	Weak transcription	NHLF	lung
46	chr4:160211800-160215000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:160211800-160215000	Weak transcription	Brain Anterior Caudate	brain
48	chr4:160211800-160218200	Weak transcription	Brain Substantia Nigra	brain
49	chr4:160211800-160219600	Weak transcription	HSMM	muscle
50	chr4:160212000-160214600	Weak transcription	Brain Inferior Temporal Lobe	brain

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