Variant report

Variant	rs12037712
Chromosome Location	chr1:220330186-220330187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr1:220329990-220330336	HepG2	liver:	n/a	n/a
2	MAFK	chr1:220330062-220330345	K562	blood:	n/a	n/a
3	MAFK	chr1:220330000-220330234	Hela-S3	cervix:	n/a	n/a
4	JUND	chr1:220329982-220330297	HepG2	liver:	n/a	n/a
5	MAFK	chr1:220329989-220330335	HepG2	liver:	n/a	n/a
6	MAFK	chr1:220329994-220330340	IMR90	lung:	n/a	n/a
7	MAFK	chr1:220330009-220330319	HepG2	liver:	n/a	n/a
8	MAFF	chr1:220330032-220330313	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220322576..220325762-chr1:220328423..220332016,4	K562	blood:
2	chr1:220324262..220326114-chr1:220329198..220331900,2	K562	blood:

No data

Variant related genes	Relation type
RAB3GAP2	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10127631	1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1039206	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10863539	1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs10863540	0.82[ASN][1000 genomes]
rs11118501	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs11118506	0.82[ASN][1000 genomes]
rs11118509	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11118510	0.82[ASN][1000 genomes]
rs1124763	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12022336	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12025326	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12025702	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs12026270	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12030504	0.82[ASN][1000 genomes]
rs12031256	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032536	0.91[ASN][1000 genomes]
rs12032738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12033612	0.91[ASN][1000 genomes]
rs12039349	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12040095	0.82[ASN][1000 genomes]
rs12043920	0.91[ASN][1000 genomes]
rs12045447	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12086105	0.82[ASN][1000 genomes]
rs12086760	1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs17007107	1.00[YRI][hapmap]
rs17007135	0.83[YRI][hapmap]
rs17007139	0.87[GIH][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2577161	1.00[CEU][hapmap]
rs28650887	0.82[ASN][1000 genomes]
rs3767656	0.81[ASN][1000 genomes]
rs3820455	0.87[GIH][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs56357312	0.91[ASN][1000 genomes]
rs58966246	0.84[AFR][1000 genomes]
rs59935950	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6690426	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs73087829	0.82[ASN][1000 genomes]
rs73096595	0.83[AFR][1000 genomes]
rs73098512	0.83[AFR][1000 genomes]
rs73098518	0.83[AFR][1000 genomes]
rs73098527	0.84[AFR][1000 genomes]
rs73098528	0.84[AFR][1000 genomes]
rs73098530	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73098537	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73098540	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73098550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73098551	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73098553	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73098562	0.92[AFR][1000 genomes]
rs73098567	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73098569	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73098579	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs874331	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220268400-220330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220298800-220334600	Strong transcription	Fetal Thymus	thymus
3	chr1:220303800-220331600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:220304800-220335600	Strong transcription	Placenta	Placenta
5	chr1:220305400-220331800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:220305400-220347000	Strong transcription	Dnd41	blood
7	chr1:220305400-220376600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:220305600-220347600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:220305800-220347000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:220306600-220336600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:220306600-220346600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:220306600-220348200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:220308400-220339600	Weak transcription	Psoas Muscle	Psoas
14	chr1:220311200-220330600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:220311200-220343400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:220311400-220330200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:220311400-220331000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:220311600-220335000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:220312000-220331200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:220312200-220347400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:220318600-220335400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:220318800-220330600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:220319000-220341400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:220320400-220331200	Strong transcription	NHDF-Ad	bronchial
25	chr1:220320400-220341800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:220320600-220336600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:220320800-220331600	Strong transcription	NHLF	lung
28	chr1:220322800-220334600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:220323000-220335000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr1:220323000-220341000	Strong transcription	HSMM	muscle
31	chr1:220323200-220334800	Strong transcription	NH-A	brain
32	chr1:220323200-220335000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:220323400-220331800	Strong transcription	Primary T cells from cord blood	blood
34	chr1:220323400-220333800	Strong transcription	Fetal Stomach	stomach
35	chr1:220323800-220331400	Strong transcription	A549	lung
36	chr1:220323800-220332400	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr1:220323800-220333200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr1:220323800-220336600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:220323800-220348000	Strong transcription	Primary B cells from cord blood	blood
40	chr1:220324000-220331400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:220324000-220331400	Strong transcription	Fetal Intestine Large	intestine
42	chr1:220324000-220331600	Strong transcription	Thymus	Thymus
43	chr1:220324000-220331800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:220324000-220334800	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:220324000-220335800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr1:220324000-220347000	Strong transcription	HMEC	breast
47	chr1:220324200-220331400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr1:220324200-220331400	Strong transcription	GM12878-XiMat	blood
49	chr1:220324400-220332800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:220324600-220330200	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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