Variant report

Variant	rs13100632
Chromosome Location	chr3:150323915-150323916
allele	C/T
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	chr3:150323781-150324268	HL-60	blood:	n/a	n/a
2	JUND	chr3:150323805-150324197	K562	blood:	n/a	n/a
3	UBTF	chr3:150323818-150324127	K562	blood:	n/a	n/a
4	IRF1	chr3:150323822-150324149	K562	blood:	n/a	chr3:150323897-150323911
5	MAX	chr3:150323874-150324183	K562	blood:	n/a	n/a
6	TBP	chr3:150323850-150323918	K562	blood:	n/a	n/a
7	CEBPB	chr3:150323761-150324466	K562	blood:	n/a	chr3:150324260-150324273 chr3:150324260-150324271 chr3:150324261-150324272
8	MAX	chr3:150323845-150324040	K562	blood:	n/a	n/a
9	CHD1	chr3:150322763-150324154	GM12878	blood:	n/a	n/a
10	EP300	chr3:150323799-150324153	K562	blood:	n/a	n/a
11	ZNF384	chr3:150323428-150324317	K562	blood:	n/a	chr3:150323746-150323754
12	UBTF	chr3:150323811-150324192	K562	blood:	n/a	n/a
13	BCLAF1	chr3:150323885-150324405	GM12878	blood:	n/a	n/a
14	WRNIP1	chr3:150323891-150324257	GM12878	blood:	n/a	n/a
15	TBL1XR1	chr3:150323743-150324157	GM12878	blood:	n/a	n/a
16	POLR2A	chr3:150323458-150324248	K562	blood:	n/a	n/a
17	RCOR1	chr3:150323865-150324208	K562	blood:	n/a	n/a
18	MAFK	chr3:150323818-150324151	K562	blood:	n/a	n/a
19	TBL1XR1	chr3:150323543-150324191	K562	blood:	n/a	n/a
20	IRF1	chr3:150323745-150324247	K562	blood:	n/a	chr3:150323897-150323911
21	TEAD4	chr3:150323692-150324282	K562	blood:	n/a	n/a
22	ARID3A	chr3:150323499-150324298	K562	blood:	n/a	n/a
23	CEBPB	chr3:150323714-150324383	K562	blood:	n/a	chr3:150324260-150324273 chr3:150324260-150324271 chr3:150324261-150324272
24	ATF1	chr3:150323890-150324249	K562	blood:	n/a	n/a
25	MXI1	chr3:150323813-150324203	GM12878	blood:	n/a	n/a
26	RUNX3	chr3:150323854-150324250	GM12878	blood:	n/a	n/a
27	PAX5	chr3:150323911-150324180	GM12878	blood:	n/a	n/a
28	JUN	chr3:150323737-150324156	K562	blood:	n/a	n/a
29	POLR2A	chr3:150323895-150324274	GM12878	blood:	n/a	n/a
30	MYC	chr3:150323650-150324188	K562	blood:	n/a	n/a
31	RUNX3	chr3:150323845-150324418	GM12878	blood:	n/a	n/a
32	MAFF	chr3:150323808-150324149	K562	blood:	n/a	n/a
33	CCNT2	chr3:150323887-150324157	K562	blood:	n/a	n/a
34	STAT3	chr3:150323852-150324314	GM12878	blood:	n/a	chr3:150324263-150324271
35	ATF2	chr3:150323796-150324452	GM12878	blood:	n/a	n/a
36	MAZ	chr3:150323813-150324229	K562	blood:	n/a	n/a
37	ZNF384	chr3:150323698-150324187	GM12878	blood:	n/a	chr3:150323746-150323754

No.	Distal block	Cell Line	Cell type
1	chr3:150262614..150266370-chr3:150321478..150325578,8	K562	blood:
2	chr3:150260773..150268334-chr3:150317152..150324883,17	K562	blood:
3	chr3:150262051..150264965-chr3:150323680..150325279,2	MCF-7	breast:
4	chr3:150320056..150325236-chr3:150328045..150333634,6	MCF-7	breast:
5	chr3:150319130..150324790-chr3:150327939..150333389,12	K562	blood:
6	chr3:150259884..150269236-chr3:150319275..150325391,10	MCF-7	breast:
7	chr3:150319883..150326696-chr3:150327224..150333205,16	MCF-7	breast:
8	chr3:150319507..150322947-chr3:150323371..150327466,9	MCF-7	breast:

Variant related genes	Relation type
SERP1	TF binding region
ENSG00000144895	Chromatin interaction
ENSG00000271711	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000198843	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13066567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34156311	1.00[AMR][1000 genomes]
rs34597052	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs35047357	1.00[AMR][1000 genomes]
rs71306516	0.82[EUR][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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 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	chr3:150320000-150324000	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr3:150321600-150324400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:150322000-150324400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr3:150322000-150325200	Weak transcription	Spleen	Spleen
5	chr3:150322200-150324000	Enhancers	Fetal Heart	heart
6	chr3:150322200-150324000	Weak transcription	Ovary	ovary
7	chr3:150322200-150324000	Weak transcription	Pancreas	Pancrea
8	chr3:150322200-150324400	Weak transcription	Aorta	Aorta
9	chr3:150322200-150325200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:150322200-150325200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:150322200-150325200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:150322200-150325200	Weak transcription	Brain Substantia Nigra	brain
13	chr3:150322200-150325200	Weak transcription	Esophagus	oesophagus
14	chr3:150322200-150327000	Weak transcription	Lung	lung
15	chr3:150322200-150329400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:150322200-150336400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:150322200-150347000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:150322400-150324000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:150322400-150324000	Enhancers	Liver	Liver
20	chr3:150322400-150324000	Enhancers	Rectal Smooth Muscle	rectum
21	chr3:150322400-150324000	Weak transcription	Right Atrium	heart
22	chr3:150322400-150324200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr3:150322400-150324400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr3:150322400-150324800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr3:150322400-150325000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:150322400-150325200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:150322400-150325200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:150322400-150325200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:150322400-150325200	Enhancers	Primary B cells from peripheral blood	blood
30	chr3:150322400-150325200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:150322400-150325200	Weak transcription	Psoas Muscle	Psoas
32	chr3:150322400-150325400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr3:150322400-150326000	Enhancers	Brain Hippocampus Middle	brain
34	chr3:150322400-150326400	Weak transcription	Fetal Brain Female	brain
35	chr3:150322400-150329000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr3:150322400-150336200	Weak transcription	Fetal Kidney	kidney
37	chr3:150322400-150344000	Weak transcription	HSMMtube	muscle
38	chr3:150322400-150350800	Weak transcription	Colonic Mucosa	Colon
39	chr3:150322400-150353000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:150322600-150324200	Enhancers	NHDF-Ad	bronchial
41	chr3:150322600-150324600	Enhancers	Brain Cingulate Gyrus	brain
42	chr3:150322600-150324600	Weak transcription	Stomach Mucosa	stomach
43	chr3:150322600-150325000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr3:150322600-150327000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:150322600-150329400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:150322600-150329400	Weak transcription	Fetal Stomach	stomach
47	chr3:150322600-150329600	Weak transcription	Fetal Intestine Large	intestine
48	chr3:150322600-150329600	Weak transcription	Placenta	Placenta
49	chr3:150322800-150324000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:150322800-150324000	Genic enhancers	HUES64 Cell Line	embryonic stem cell

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