Variant report

Variant	rs72995990
Chromosome Location	chr4:166207821-166207822
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	chr4:166206637..166209635-chr4:166235769..166238670,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11722307	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722313	0.87[ASN][1000 genomes]
rs11723812	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11725104	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11726821	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11729242	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11730744	0.87[ASN][1000 genomes]
rs11730816	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733838	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11734199	0.83[ASN][1000 genomes]
rs17009130	0.84[ASN][1000 genomes]
rs28446212	0.84[ASN][1000 genomes]
rs34274617	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34962116	0.87[ASN][1000 genomes]
rs35068327	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4129766	0.86[EUR][1000 genomes]
rs55951309	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56208210	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56229427	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56246670	0.87[ASN][1000 genomes]
rs56919208	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57645545	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57715828	0.85[AFR][1000 genomes]
rs59089770	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59229716	0.87[ASN][1000 genomes]
rs59263314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59639455	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60197231	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs60459687	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60905916	0.87[ASN][1000 genomes]
rs61149197	0.83[ASN][1000 genomes]
rs72993964	0.87[ASN][1000 genomes]
rs72993975	0.91[ASN][1000 genomes]
rs72995922	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72995992	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72995999	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72997704	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72997706	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73860621	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73860622	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73860630	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73875268	0.91[ASN][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	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:166170000-166210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:166170600-166209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:166177200-166218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:166177400-166209200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:166177400-166215200	Weak transcription	Fetal Stomach	stomach
7	chr4:166177400-166216000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:166177400-166218600	Weak transcription	Spleen	Spleen
9	chr4:166177400-166219000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:166178800-166209200	Weak transcription	Brain Substantia Nigra	brain
11	chr4:166178800-166209400	Weak transcription	Brain Anterior Caudate	brain
12	chr4:166178800-166218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:166178800-166218800	Weak transcription	Esophagus	oesophagus
14	chr4:166181200-166208200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:166183600-166209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:166183800-166209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:166183800-166215200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:166183800-166218800	Weak transcription	Aorta	Aorta
19	chr4:166191400-166209200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:166192800-166223000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:166193200-166209200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:166193200-166209200	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:166193200-166209400	Weak transcription	NHEK	skin
24	chr4:166195000-166210000	Weak transcription	Dnd41	blood
25	chr4:166195000-166215800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:166195600-166209400	Weak transcription	Adipose Nuclei	Adipose
27	chr4:166196200-166215800	Weak transcription	Left Ventricle	heart
28	chr4:166196200-166217600	Weak transcription	Gastric	stomach
29	chr4:166196600-166209800	Weak transcription	NH-A	brain
30	chr4:166197400-166210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:166197600-166209200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:166197600-166216000	Weak transcription	Pancreas	Pancrea
33	chr4:166198200-166230000	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:166199000-166209200	Weak transcription	HSMM	muscle
35	chr4:166199600-166223000	Weak transcription	Ovary	ovary
36	chr4:166200200-166208600	Weak transcription	Liver	Liver
37	chr4:166200200-166209200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:166200200-166217200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr4:166200400-166210000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:166200600-166209200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:166201000-166217200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:166201400-166209400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr4:166202400-166218800	Weak transcription	Brain Germinal Matrix	brain
44	chr4:166204200-166223000	Weak transcription	Thymus	Thymus
45	chr4:166204800-166221200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:166205600-166218800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:166205800-166209600	Weak transcription	Fetal Lung	lung
48	chr4:166206000-166218800	Weak transcription	Fetal Intestine Small	intestine
49	chr4:166206200-166215400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:166206200-166216600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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