Variant report

Variant	rs13403757
Chromosome Location	chr2:73290169-73290170
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	STAT3	chr2:73290075-73291630	MCF10A-Er-Src	breast:	n/a	n/a
2	SPI1	chr2:73290079-73290204	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73267482..73270454-chr2:73289575..73291356,2	K562	blood:
2	chr2:73285227..73287665-chr2:73288281..73291317,3	K562	blood:
3	chr2:73287986..73293083-chr2:73295177..73299013,8	MCF-7	breast:
4	chr2:73289263..73291570-chr2:73296158..73299685,4	MCF-7	breast:

Variant related genes	Relation type
SFXN5	TF binding region
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10166220	0.91[JPT][hapmap]
rs10167566	0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10174548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10176939	0.87[JPT][hapmap]
rs10177159	0.82[JPT][hapmap]
rs10180720	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10180995	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10189744	0.91[JPT][hapmap]
rs10190861	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10192077	0.95[JPT][hapmap]
rs10197305	0.86[JPT][hapmap]
rs10203608	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1046186	0.98[ASN][1000 genomes]
rs10865396	0.81[ASN][1000 genomes]
rs11126389	0.81[ASN][1000 genomes]
rs11686557	0.88[ASN][1000 genomes]
rs11885522	0.92[ASN][1000 genomes]
rs12104691	0.95[ASN][1000 genomes]
rs12233055	0.81[JPT][hapmap]
rs12614059	0.84[ASN][1000 genomes]
rs13018842	0.81[ASN][1000 genomes]
rs13385994	0.95[ASN][1000 genomes]
rs13388404	0.91[JPT][hapmap]
rs13390072	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13391532	0.92[ASN][1000 genomes]
rs13393567	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13400920	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13400948	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13403781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13407719	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13416407	1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs13427947	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1430349	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1430350	0.92[ASN][1000 genomes]
rs1430351	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17008571	0.87[JPT][hapmap]
rs17008611	0.81[JPT][hapmap]
rs17008631	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1864488	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1992133	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs2421098	0.91[JPT][hapmap]
rs3813222	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3813223	0.90[ASN][1000 genomes]
rs3901273	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4144837	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs4514897	0.91[JPT][hapmap]
rs4591365	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55894650	0.92[ASN][1000 genomes]
rs57536428	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57701326	0.92[ASN][1000 genomes]
rs57726945	0.88[ASN][1000 genomes]
rs57937746	0.98[ASN][1000 genomes]
rs6546796	0.81[JPT][hapmap]
rs6546797	0.81[JPT][hapmap]
rs6546800	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6546801	0.89[ASN][1000 genomes]
rs6709938	0.87[JPT][hapmap]
rs6710739	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6710755	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs6711891	0.86[JPT][hapmap]
rs6712925	0.94[ASN][1000 genomes]
rs6719333	0.91[JPT][hapmap]
rs6720817	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6726940	0.82[JPT][hapmap]
rs6727919	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6729266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6732369	0.91[JPT][hapmap]
rs6736153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6749237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6750069	0.87[JPT][hapmap]
rs6757131	0.86[JPT][hapmap]
rs6759733	0.80[JPT][hapmap]
rs727470	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs727471	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs732179	0.82[JPT][hapmap]
rs732180	0.80[JPT][hapmap]
rs7557173	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7559074	0.92[ASN][1000 genomes]
rs7559340	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7566904	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs7570876	0.91[JPT][hapmap]
rs7579770	0.87[JPT][hapmap]
rs7580216	0.81[JPT][hapmap]
rs7593322	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7597032	0.87[JPT][hapmap]
rs7599657	0.92[ASN][1000 genomes]
rs7602651	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs891432	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs891433	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs893258	0.87[JPT][hapmap]
rs893259	0.86[JPT][hapmap]
rs9309471	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
2	chr2:73262800-73290600	Weak transcription	NHEK	skin
3	chr2:73264200-73290600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:73272600-73291200	Weak transcription	Fetal Heart	heart
5	chr2:73275800-73297000	Weak transcription	Pancreas	Pancrea
6	chr2:73277800-73290400	Weak transcription	HMEC	breast
7	chr2:73277800-73290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:73277800-73291200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:73284600-73290600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:73284600-73296600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:73284800-73290200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:73284800-73296400	Weak transcription	Fetal Kidney	kidney
13	chr2:73285000-73290600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:73285000-73290600	Weak transcription	HSMMtube	muscle
15	chr2:73285000-73290800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:73285000-73291200	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:73285000-73291200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:73285000-73291200	Weak transcription	Lung	lung
19	chr2:73285000-73291200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:73285000-73291200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:73285000-73295600	Weak transcription	Primary B cells from cord blood	blood
22	chr2:73285000-73295800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:73285000-73296000	Weak transcription	Adipose Nuclei	Adipose
24	chr2:73285000-73296000	Weak transcription	Gastric	stomach
25	chr2:73285000-73296000	Weak transcription	Thymus	Thymus
26	chr2:73285000-73296600	Weak transcription	Placenta	Placenta
27	chr2:73285000-73296600	Weak transcription	Ovary	ovary
28	chr2:73285200-73290600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:73285200-73290600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:73285200-73290800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:73285200-73291000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:73285200-73295800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:73285200-73296400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:73285400-73290800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:73285600-73290400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:73285600-73290400	Weak transcription	Fetal Intestine Large	intestine
37	chr2:73285600-73290600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:73285600-73291400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:73285600-73291800	Weak transcription	Fetal Thymus	thymus
40	chr2:73285800-73290800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:73285800-73291000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:73285800-73291200	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:73285800-73295200	Weak transcription	Dnd41	blood
44	chr2:73285800-73295600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:73285800-73295600	Weak transcription	Aorta	Aorta
46	chr2:73286000-73290600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:73286000-73291000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:73286000-73296800	Weak transcription	Fetal Stomach	stomach
49	chr2:73286200-73290200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:73286200-73290600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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