Variant report

Variant	rs72706039
Chromosome Location	chr1:161740156-161740157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr1:161740099-161740348	GM12891	blood:	n/a	chr1:161740225-161740237
2	YY1	chr1:161740102-161740450	K562	blood:	n/a	chr1:161740225-161740237
3	YY1	chr1:161740062-161740348	GM12892	blood:	n/a	chr1:161740225-161740237
4	YY1	chr1:161740069-161740403	GM12878	blood:	n/a	chr1:161740225-161740237
5	MAX	chr1:161740122-161740438	K562	blood:	n/a	n/a
6	YY1	chr1:161740113-161740382	K562	blood:	n/a	chr1:161740225-161740237
7	YY1	chr1:161740085-161740410	GM12878	blood:	n/a	chr1:161740225-161740237
8	YY1	chr1:161740080-161740417	H1-hESC	embryonic stem cell:	n/a	chr1:161740225-161740237
9	ELF1	chr1:161740152-161740345	K562	blood:	n/a	chr1:161740260-161740273
10	YY1	chr1:161740070-161740334	GM12892	blood:	n/a	chr1:161740225-161740237

No.	Distal block	Cell Line	Cell type
1	chr1:161735908..161737428-chr1:161738641..161741168,2	MCF-7	breast:
2	chr1:161736308..161738165-chr1:161740063..161741622,2	MCF-7	breast:
3	chr1:161739606..161743338-chr1:161743718..161745860,3	K562	blood:
4	chr1:161735278..161737991-chr1:161739066..161741071,2	K562	blood:

Variant related genes	Relation type
ENSG00000226889	TF binding region
ENSG00000226889	Chromatin interaction
ENSG00000118217	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17452514	0.91[AMR][1000 genomes]
rs72704062	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72704075	1.00[AFR][1000 genomes]
rs72706034	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72706043	1.00[AFR][1000 genomes]
rs72706058	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72708088	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72708099	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161736800-161752000	Weak transcription	Lung	lung
2	chr1:161736800-161754000	Weak transcription	Colonic Mucosa	Colon
3	chr1:161736800-161757200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:161737000-161740200	Enhancers	Colon Smooth Muscle	Colon
5	chr1:161737000-161740600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr1:161737000-161741000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr1:161737000-161743800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:161737000-161745400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:161737000-161751600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:161737000-161752000	Weak transcription	Left Ventricle	heart
11	chr1:161737000-161765600	Weak transcription	Aorta	Aorta
12	chr1:161737200-161740800	Enhancers	Primary T cells from cord blood	blood
13	chr1:161737200-161741400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:161737200-161741600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:161737200-161744000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:161737200-161745000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:161737200-161746600	Weak transcription	NHLF	lung
18	chr1:161737200-161748000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:161737200-161751200	Weak transcription	Placenta	Placenta
20	chr1:161737200-161751400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:161737200-161752200	Weak transcription	Psoas Muscle	Psoas
22	chr1:161737200-161752600	Weak transcription	Esophagus	oesophagus
23	chr1:161737200-161752800	Weak transcription	HSMMtube	muscle
24	chr1:161737200-161761600	Weak transcription	Fetal Brain Male	brain
25	chr1:161737200-161761600	Weak transcription	Right Ventricle	heart
26	chr1:161737200-161775200	Weak transcription	Fetal Stomach	stomach
27	chr1:161737200-161775800	Weak transcription	Stomach Mucosa	stomach
28	chr1:161737200-161780000	Weak transcription	Fetal Intestine Small	intestine
29	chr1:161737400-161740400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:161737400-161740600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:161737400-161740800	Weak transcription	A549	lung
32	chr1:161737400-161741200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:161737400-161750400	Weak transcription	Fetal Intestine Large	intestine
34	chr1:161737400-161751400	Weak transcription	Osteobl	bone
35	chr1:161737400-161752200	Weak transcription	HSMM	muscle
36	chr1:161737600-161740200	Weak transcription	Brain Angular Gyrus	brain
37	chr1:161737600-161740400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:161737600-161741000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:161737600-161741400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:161737600-161745400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:161737600-161751400	Weak transcription	NHDF-Ad	bronchial
42	chr1:161737600-161752000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:161737600-161762000	Weak transcription	Fetal Lung	lung
44	chr1:161737600-161764600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:161737800-161750400	Weak transcription	Brain Germinal Matrix	brain
46	chr1:161738000-161741200	Weak transcription	Primary B cells from cord blood	blood
47	chr1:161738000-161752400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:161738200-161740200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:161738200-161740400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:161738200-161740800	Enhancers	Primary neutrophils fromperipheralblood	blood

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