Variant report

Variant	rs72762688
Chromosome Location	chr1:226449864-226449865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226449375..226451210-chr1:226495059..226498004,2	K562	blood:

Variant related genes	Relation type
ENSG00000183814	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58149851	0.84[AMR][1000 genomes]
rs72762695	0.88[AMR][1000 genomes]
rs72762699	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72764505	0.80[AMR][1000 genomes]
rs72764527	0.83[AFR][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	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226412000-226455400	Weak transcription	Ovary	ovary
2	chr1:226412000-226456200	Weak transcription	NH-A	brain
3	chr1:226412000-226460600	Weak transcription	Aorta	Aorta
4	chr1:226412200-226456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:226412200-226485400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:226413200-226456200	Weak transcription	NHDF-Ad	bronchial
7	chr1:226414000-226456800	Weak transcription	Fetal Kidney	kidney
8	chr1:226414200-226454400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:226414600-226457000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:226414800-226484600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:226415400-226473800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:226415600-226450000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:226415800-226495400	Weak transcription	Liver	Liver
14	chr1:226416200-226495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:226416400-226457400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:226418400-226455400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:226418400-226484600	Weak transcription	Right Ventricle	heart
18	chr1:226421800-226457400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:226425000-226452200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:226425000-226456200	Weak transcription	HMEC	breast
21	chr1:226425000-226456600	Weak transcription	NHEK	skin
22	chr1:226425000-226474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:226427000-226450200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:226432800-226452400	Weak transcription	Fetal Intestine Large	intestine
25	chr1:226433000-226450200	Weak transcription	A549	lung
26	chr1:226434200-226496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:226436800-226496000	Weak transcription	Esophagus	oesophagus
28	chr1:226437400-226455200	Weak transcription	Hela-S3	cervix
29	chr1:226438400-226451000	Weak transcription	HUVEC	blood vessel
30	chr1:226438400-226473400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:226445600-226453600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:226446000-226451600	Weak transcription	Fetal Intestine Small	intestine
33	chr1:226446800-226450400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:226446800-226451200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:226447200-226451600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr1:226447200-226456200	Weak transcription	Osteobl	bone
37	chr1:226447600-226454000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:226447800-226450000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:226447800-226450000	ZNF genes & repeats	Dnd41	blood
40	chr1:226447800-226450400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:226448000-226450000	ZNF genes & repeats	Primary B cells from cord blood	blood
42	chr1:226448000-226450400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:226448200-226451200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:226448200-226451200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:226448200-226451400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:226448200-226451600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:226448200-226454200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:226448200-226455600	Weak transcription	HSMM	muscle
49	chr1:226448200-226459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:226448200-226461600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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