Variant report

Variant	rs72903418
Chromosome Location	chr2:73308158-73308159
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	HMGN3	chr2:73308000-73308193	K562	blood:	n/a	n/a
2	POLR2A	chr2:73307773-73308881	K562	blood:	n/a	n/a
3	ELF1	chr2:73307865-73308210	K562	blood:	n/a	chr2:73308034-73308047 chr2:73308035-73308046 chr2:73308036-73308045
4	ELF1	chr2:73307817-73308246	HepG2	liver:	n/a	chr2:73308034-73308047 chr2:73308035-73308046 chr2:73308036-73308045
5	ZNF263	chr2:73307345-73308350	HEK293-T-REx	kidney:	n/a	chr2:73307608-73307617 chr2:73307503-73307512 chr2:73307492-73307513 chr2:73307605-73307614
6	ELF1	chr2:73307867-73308248	K562	blood:	n/a	chr2:73308034-73308047 chr2:73308035-73308046 chr2:73308036-73308045
7	ELF1	chr2:73307887-73308215	GM12878	blood:	n/a	chr2:73308034-73308047 chr2:73308035-73308046 chr2:73308036-73308045
8	ELF1	chr2:73307890-73308169	HepG2	liver:	n/a	chr2:73308034-73308047 chr2:73308035-73308046 chr2:73308036-73308045

No.	Distal block	Cell Line	Cell type
1	chr2:73306420..73310594-chr2:73310994..73314109,4	K562	blood:
2	chr2:73297623..73300370-chr2:73303769..73308752,6	MCF-7	breast:
3	chr2:73297070..73299155-chr2:73306515..73308628,3	MCF-7	breast:

Variant related genes	Relation type
RAB11FIP5	TF binding region
ENSG00000135631	Chromatin interaction
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10427362	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57471178	0.88[AFR][1000 genomes]
rs72903431	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903446	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr2:73299200-73314800	Weak transcription	Small Intestine	intestine
2	chr2:73299400-73314800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:73299400-73314800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:73299400-73318200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:73299400-73318400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:73299600-73312600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:73299600-73314200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:73299600-73314600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:73299600-73314800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:73299600-73315400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:73299600-73316000	Weak transcription	NHDF-Ad	bronchial
12	chr2:73299600-73319400	Weak transcription	K562	blood
13	chr2:73299800-73311200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:73299800-73314800	Weak transcription	Brain Substantia Nigra	brain
15	chr2:73299800-73314800	Weak transcription	HSMM	muscle
16	chr2:73300000-73308800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:73300000-73312200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:73300000-73319200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:73300200-73312000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:73300200-73314200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:73300400-73310800	Weak transcription	Liver	Liver
22	chr2:73300600-73308400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:73300600-73310400	Strong transcription	Fetal Intestine Small	intestine
24	chr2:73300600-73312600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:73300600-73313000	Strong transcription	Fetal Stomach	stomach
26	chr2:73300800-73311800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:73301400-73308200	Strong transcription	NHLF	lung
28	chr2:73302600-73312600	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:73302600-73316400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:73303000-73328600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:73303200-73320600	Weak transcription	Psoas Muscle	Psoas
32	chr2:73303400-73312000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:73303400-73312600	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:73303400-73313600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:73303400-73320000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:73303600-73311800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:73304000-73311800	Weak transcription	Hela-S3	cervix
38	chr2:73304400-73314200	Weak transcription	HSMMtube	muscle
39	chr2:73305000-73311200	Weak transcription	Fetal Kidney	kidney
40	chr2:73305200-73308400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:73305600-73308600	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:73305600-73310800	Strong transcription	Colonic Mucosa	Colon
43	chr2:73305600-73312400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:73305600-73313400	Weak transcription	NH-A	brain
45	chr2:73306000-73308400	Strong transcription	Brain Germinal Matrix	brain
46	chr2:73306000-73308600	Strong transcription	Right Ventricle	heart
47	chr2:73306200-73308200	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr2:73306200-73308400	Strong transcription	HUVEC	blood vessel
49	chr2:73306400-73311000	Strong transcription	Gastric	stomach
50	chr2:73306400-73311000	Strong transcription	Stomach Smooth Muscle	stomach

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