Variant report

Variant	rs11735989
Chromosome Location	chr4:119688783-119688784
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	EP300	chr4:119688348-119688899	K562	blood:	n/a	n/a
2	GATA1	chr4:119687702-119689169	PBDE	blood:	n/a	chr4:119688576-119688592 chr4:119688360-119688367 chr4:119688581-119688588 chr4:119688349-119688366 chr4:119688574-119688595 chr4:119688579-119688589 chr4:119688581-119688588 chr4:119688581-119688588 chr4:119688579-119688588 chr4:119688358-119688367
3	MYC	chr4:119688256-119688789	K562	blood:	n/a	n/a
4	TAL1	chr4:119688173-119688897	K562	blood:	n/a	chr4:119688349-119688367
5	GATA2	chr4:119688212-119688794	K562	blood:	n/a	chr4:119688576-119688592 chr4:119688360-119688367 chr4:119688581-119688588 chr4:119688349-119688366 chr4:119688574-119688595 chr4:119688579-119688589 chr4:119688581-119688588 chr4:119688581-119688588 chr4:119688579-119688588 chr4:119688358-119688367
6	ARID3A	chr4:119688379-119689029	K562	blood:	n/a	n/a

Variant related genes	Relation type
SEC24D	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11724866	0.87[EUR][1000 genomes]
rs11730728	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945703	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs12640223	0.87[EUR][1000 genomes]
rs12646268	0.85[EUR][1000 genomes]
rs12646298	0.86[EUR][1000 genomes]
rs12648682	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs12648778	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs13105145	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13105732	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13111664	0.87[EUR][1000 genomes]
rs13115157	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs13124091	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs13146440	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs13146816	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs13150663	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2029399	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs2046779	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs2288307	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087958	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs34091082	0.89[EUR][1000 genomes]
rs34270389	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34508500	0.89[EUR][1000 genomes]
rs34628947	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35023705	0.87[EUR][1000 genomes]
rs35071348	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392662	0.90[EUR][1000 genomes]
rs35404779	0.90[EUR][1000 genomes]
rs35522890	0.87[EUR][1000 genomes]
rs35613641	0.87[EUR][1000 genomes]
rs35952841	0.87[EUR][1000 genomes]
rs36023173	0.87[EUR][1000 genomes]
rs3733517	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs66500248	0.87[EUR][1000 genomes]
rs66942289	0.87[EUR][1000 genomes]
rs67151421	0.88[EUR][1000 genomes]
rs67989872	0.89[EUR][1000 genomes]
rs6813357	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs6814447	0.87[EUR][1000 genomes]
rs6817440	0.83[YRI][hapmap]
rs6817790	0.87[EUR][1000 genomes]
rs6818241	0.87[EUR][1000 genomes]
rs6821350	0.87[EUR][1000 genomes]
rs6827740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6829010	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6831197	0.87[EUR][1000 genomes]
rs6836005	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs6837652	0.87[EUR][1000 genomes]
rs6847706	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs6849714	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6852706	0.86[EUR][1000 genomes]
rs6853722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855919	0.87[EUR][1000 genomes]
rs6857285	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs71610228	0.87[EUR][1000 genomes]
rs72679023	0.90[EUR][1000 genomes]
rs7653962	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs7662650	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7670182	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7681835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692721	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs7695602	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs7696543	0.90[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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11735989	RP11-384K6.6	cis	Artery Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
3	chr4:119640800-119692600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:119649200-119693600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:119659600-119690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:119660400-119689800	Weak transcription	Brain Angular Gyrus	brain
7	chr4:119662000-119694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:119668000-119689800	Weak transcription	Brain Germinal Matrix	brain
9	chr4:119668200-119690200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:119677000-119688800	Genic enhancers	Osteobl	bone
11	chr4:119678000-119689400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:119678200-119692000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:119678600-119717400	Weak transcription	Esophagus	oesophagus
14	chr4:119679000-119717600	Weak transcription	Colonic Mucosa	Colon
15	chr4:119680400-119693400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:119680600-119691800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:119681000-119688800	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr4:119681000-119692200	Strong transcription	HepG2	liver
19	chr4:119681200-119691600	Strong transcription	Placenta	Placenta
20	chr4:119681400-119691800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:119682000-119689800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:119682200-119691600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr4:119682200-119691600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:119682200-119692200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:119682200-119692400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:119682400-119689000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:119682400-119689400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr4:119682800-119689400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr4:119682800-119689400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:119683200-119689600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr4:119684000-119688800	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr4:119684000-119689400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:119684200-119689600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr4:119684200-119693400	Weak transcription	Fetal Brain Male	brain
35	chr4:119684400-119704000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:119684600-119689200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:119684600-119689600	Strong transcription	Fetal Intestine Large	intestine
38	chr4:119684600-119689600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr4:119684800-119689600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:119684800-119690000	Strong transcription	Primary T cells from cord blood	blood
41	chr4:119685000-119690000	Strong transcription	Dnd41	blood
42	chr4:119685200-119689000	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr4:119685200-119689000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:119685600-119692400	Strong transcription	Liver	Liver
45	chr4:119685800-119694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:119686800-119704600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:119687200-119688800	Strong transcription	Primary B cells from cord blood	blood
48	chr4:119687200-119691800	Weak transcription	Brain Substantia Nigra	brain
49	chr4:119687400-119689400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:119687400-119689400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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