Variant report

Variant	rs67772386
Chromosome Location	chr2:38831388-38831389
allele	A/G
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	RAD21	chr2:38827547-38831481	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr2:38829389-38831587	A549	lung:	n/a	chr2:38830289-38830302 chr2:38830180-38830193
3	CHD1	chr2:38827485-38831648	IMR90	lung:	n/a	n/a
4	SMC3	chr2:38827460-38831532	SK-N-SH	brain:	n/a	chr2:38830755-38830765 chr2:38830289-38830299
5	POLR2A	chr2:38821640-38832164	K562	blood:	n/a	n/a
6	JUN	chr2:38829850-38831483	K562	blood:	n/a	chr2:38830257-38830266
7	BHLHE40	chr2:38829838-38831429	K562	blood:	n/a	chr2:38829847-38829863 chr2:38830178-38830194
8	NR2F2	chr2:38829773-38831415	K562	blood:	n/a	n/a
9	MAFK	chr2:38831327-38831560	HepG2	liver:	n/a	chr2:38831458-38831469

No.	Distal block	Cell Line	Cell type
1	chr2:38828577..38831705-chr2:38976861..38979916,6	MCF-7	breast:
2	chr2:38825670..38832919-chr2:38891527..38903424,21	K562	blood:
3	chr2:38819128..38833161-chr2:38974716..38980003,37	K562	blood:
4	chr2:38823060..38827854-chr2:38827983..38831423,11	MCF-7	breast:
5	chr2:38824811..38832919-chr2:38891494..38898299,16	K562	blood:
6	chr2:38824074..38831950-chr2:38975822..38980618,12	MCF-7	breast:
7	chr2:38831260..38832784-chr2:38845014..38847198,2	MCF-7	breast:
8	chr2:38816516..38836019-chr2:38963690..38980163,62	K562	blood:
9	chr2:38830892..38832834-chr2:38919143..38921497,2	K562	blood:

Variant related genes	Relation type
HNRNPLL	TF binding region
ENSG00000115875	Chromatin interaction
ENSG00000232518	Chromatin interaction
ENSG00000143891	Chromatin interaction
ENSG00000143889	Chromatin interaction
ENSG00000152147	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13032371	0.81[ASN][1000 genomes]
rs13431551	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13432435	0.86[ASN][1000 genomes]
rs13432610	0.83[ASN][1000 genomes]
rs1368114	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1579537	0.89[EUR][1000 genomes]
rs17022996	0.90[ASN][1000 genomes]
rs17421743	0.82[EUR][1000 genomes]
rs1864830	0.82[EUR][1000 genomes]
rs2099261	0.81[ASN][1000 genomes]
rs2217537	0.87[ASN][1000 genomes]
rs2253519	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2373421	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34450185	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs34533895	0.82[EUR][1000 genomes]
rs36057155	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6544169	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6733950	0.85[ASN][1000 genomes]
rs6736320	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6745646	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6749343	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6757844	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7609065	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581482	chr2:38799820-38858669	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581483	chr2:38799820-38862223	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38826400-38831400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:38827000-38831400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:38827600-38831400	Active TSS	Colonic Mucosa	Colon
4	chr2:38828000-38831400	Active TSS	Fetal Muscle Trunk	muscle
5	chr2:38828800-38831400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr2:38830400-38831400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr2:38830400-38831400	Flanking Active TSS	Dnd41	blood
8	chr2:38830600-38831400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr2:38830600-38831400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
10	chr2:38830600-38831400	Flanking Active TSS	K562	blood
11	chr2:38830600-38831600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr2:38830600-38832800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:38830800-38831400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:38830800-38831400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:38830800-38831400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:38830800-38831400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:38830800-38831400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr2:38830800-38831400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr2:38830800-38831400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr2:38830800-38831400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:38830800-38831400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr2:38830800-38831400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:38830800-38831400	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr2:38830800-38831400	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr2:38830800-38831400	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr2:38830800-38831400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr2:38830800-38831400	Enhancers	Fetal Intestine Large	intestine
28	chr2:38830800-38831400	Enhancers	Fetal Lung	lung
29	chr2:38830800-38831400	Enhancers	Fetal Thymus	thymus
30	chr2:38830800-38831400	Enhancers	Left Ventricle	heart
31	chr2:38830800-38831400	Enhancers	Pancreas	Pancrea
32	chr2:38830800-38831400	Flanking Active TSS	HepG2	liver
33	chr2:38830800-38831400	Enhancers	HMEC	breast
34	chr2:38830800-38831600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:38830800-38833800	Weak transcription	HSMM	muscle
36	chr2:38830800-38838600	Weak transcription	Stomach Mucosa	stomach
37	chr2:38831000-38831400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr2:38831000-38831400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:38831000-38831400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:38831000-38831400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:38831000-38831400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:38831000-38831400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:38831000-38831400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:38831000-38831400	Enhancers	Primary T cells from cord blood	blood
45	chr2:38831000-38831400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:38831000-38831400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:38831000-38831400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr2:38831000-38831400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:38831000-38831400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:38831000-38831400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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