Variant report

Variant	rs72995997
Chromosome Location	chr4:166215850-166215851
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	chr3:73159944..73161464-chr4:166214393..166215916,2	K562	blood:
2	chr17:41464207..41465784-chr4:166212899..166215892,2	K562	blood:

Variant related genes	Relation type
ENSG00000188825	Chromatin interaction
ENSG00000223247	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10016586	0.82[EUR][1000 genomes]
rs12500138	0.90[EUR][1000 genomes]
rs12509117	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12513327	0.90[EUR][1000 genomes]
rs2048605	0.81[EUR][1000 genomes]
rs2063611	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28875275	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3817236	0.86[EUR][1000 genomes]
rs3817237	0.86[EUR][1000 genomes]
rs4691179	0.82[EUR][1000 genomes]
rs55825009	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56677525	0.86[EUR][1000 genomes]
rs56681900	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56859187	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59157290	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59353629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59537562	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6821996	0.87[EUR][1000 genomes]
rs6842924	0.90[EUR][1000 genomes]
rs6847718	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72995995	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7663561	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7699241	0.82[EUR][1000 genomes]
rs907739	0.90[EUR][1000 genomes]
rs9993842	0.84[AMR][1000 genomes];0.94[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	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

No data

Chromatin state (count:93 , 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	chr4:166177200-166218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:166177400-166216000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:166177400-166218600	Weak transcription	Spleen	Spleen
5	chr4:166177400-166219000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:166178800-166218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:166178800-166218800	Weak transcription	Esophagus	oesophagus
8	chr4:166183800-166218800	Weak transcription	Aorta	Aorta
9	chr4:166192800-166223000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:166196200-166217600	Weak transcription	Gastric	stomach
11	chr4:166197600-166216000	Weak transcription	Pancreas	Pancrea
12	chr4:166198200-166230000	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:166199600-166223000	Weak transcription	Ovary	ovary
14	chr4:166200200-166217200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:166201000-166217200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:166202400-166218800	Weak transcription	Brain Germinal Matrix	brain
17	chr4:166204200-166223000	Weak transcription	Thymus	Thymus
18	chr4:166204800-166221200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:166205600-166218800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:166206000-166218800	Weak transcription	Fetal Intestine Small	intestine
21	chr4:166206200-166216600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:166206200-166218600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:166208000-166217400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:166210200-166216000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:166210200-166218600	Weak transcription	HepG2	liver
26	chr4:166210200-166222800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:166210400-166216000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:166210400-166216000	Weak transcription	Liver	Liver
29	chr4:166210400-166216200	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:166210400-166218600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:166210400-166218800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:166210400-166218800	Weak transcription	Dnd41	blood
33	chr4:166210400-166218800	Weak transcription	HSMMtube	muscle
34	chr4:166210400-166222200	Weak transcription	NHDF-Ad	bronchial
35	chr4:166210400-166222400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:166210400-166222400	Weak transcription	NHLF	lung
37	chr4:166210400-166223000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:166210400-166223000	Weak transcription	HSMM	muscle
39	chr4:166210400-166223000	Weak transcription	NH-A	brain
40	chr4:166210400-166229000	Weak transcription	HMEC	breast
41	chr4:166210600-166217200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:166210600-166218800	Weak transcription	NHEK	skin
43	chr4:166210600-166223200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:166210800-166217200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:166211000-166218800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:166212000-166217200	Weak transcription	Lung	lung
47	chr4:166212800-166218800	Weak transcription	Fetal Brain Female	brain
48	chr4:166212800-166223000	Weak transcription	HUVEC	blood vessel
49	chr4:166214000-166217200	Weak transcription	Fetal Intestine Large	intestine
50	chr4:166214400-166246600	Weak transcription	Placenta	Placenta

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