Variant report

Variant	rs3813223
Chromosome Location	chr2:73308302-73308303
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	POLR2A	chr2:73307773-73308881	K562	blood:	n/a	n/a
2	ZNF263	chr2:73307345-73308350	HEK293-T-REx	kidney:	n/a	chr2:73307608-73307617 chr2:73307503-73307512 chr2:73307492-73307513 chr2:73307605-73307614

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: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10167566	0.89[ASN][1000 genomes]
rs10174548	0.94[ASN][1000 genomes]
rs10180720	0.89[ASN][1000 genomes]
rs10180995	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10190861	0.89[ASN][1000 genomes]
rs10203608	0.91[ASN][1000 genomes]
rs1046186	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10865396	0.83[ASN][1000 genomes]
rs11126389	0.83[ASN][1000 genomes]
rs11686557	0.90[ASN][1000 genomes]
rs11885522	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12104691	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12614059	0.86[ASN][1000 genomes]
rs13018842	0.83[ASN][1000 genomes]
rs13385994	0.89[ASN][1000 genomes]
rs13391532	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13393567	0.90[ASN][1000 genomes]
rs13400920	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13400948	0.90[ASN][1000 genomes]
rs13403757	0.90[ASN][1000 genomes]
rs13403781	0.89[ASN][1000 genomes]
rs13407719	0.90[ASN][1000 genomes]
rs13416407	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13427947	0.92[ASN][1000 genomes]
rs1430349	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1430350	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1430351	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17008631	0.88[ASN][1000 genomes]
rs1864488	0.91[ASN][1000 genomes]
rs1992133	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3813222	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3901273	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4591365	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55894650	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57536428	0.89[ASN][1000 genomes]
rs57701326	0.91[ASN][1000 genomes]
rs57726945	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57937746	0.89[ASN][1000 genomes]
rs6546800	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6546801	0.91[ASN][1000 genomes]
rs6710739	0.88[ASN][1000 genomes]
rs6710755	0.91[ASN][1000 genomes]
rs6712925	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6720817	0.90[ASN][1000 genomes]
rs6727919	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6729266	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6736153	0.94[ASN][1000 genomes]
rs6749237	0.90[ASN][1000 genomes]
rs727470	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs727471	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7557173	0.94[ASN][1000 genomes]
rs7559074	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7559340	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7566904	0.89[ASN][1000 genomes]
rs7593322	0.90[ASN][1000 genomes]
rs7599657	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7602651	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs891432	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs891433	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9309471	0.82[EUR][1000 genomes];0.88[ASN][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:96 , 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	chr2:73302600-73312600	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:73302600-73316400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:73303000-73328600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:73303200-73320600	Weak transcription	Psoas Muscle	Psoas
31	chr2:73303400-73312000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:73303400-73312600	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:73303400-73313600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:73303400-73320000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:73303600-73311800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:73304000-73311800	Weak transcription	Hela-S3	cervix
37	chr2:73304400-73314200	Weak transcription	HSMMtube	muscle
38	chr2:73305000-73311200	Weak transcription	Fetal Kidney	kidney
39	chr2:73305200-73308400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:73305600-73308600	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:73305600-73310800	Strong transcription	Colonic Mucosa	Colon
42	chr2:73305600-73312400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:73305600-73313400	Weak transcription	NH-A	brain
44	chr2:73306000-73308400	Strong transcription	Brain Germinal Matrix	brain
45	chr2:73306000-73308600	Strong transcription	Right Ventricle	heart
46	chr2:73306200-73308400	Strong transcription	HUVEC	blood vessel
47	chr2:73306400-73311000	Strong transcription	Gastric	stomach
48	chr2:73306400-73311000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr2:73306600-73308600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:73306600-73308600	Strong transcription	Adipose Nuclei	Adipose

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