Variant report

Variant	rs9567971
Chromosome Location	chr13:48574347-48574348
allele	A/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	TCF7L2	chr13:48574253-48574624	MCF-7	breast:	n/a	n/a
2	ZNF384	chr13:48574079-48574455	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:48573666..48577274-chr13:48610467..48613685,4	MCF-7	breast:
2	chr13:48572405..48574497-chr13:48807171..48809286,2	MCF-7	breast:
3	chr13:48573863..48576384-chr13:48611584..48613293,2	K562	blood:

Variant related genes	Relation type
SUCLA2-AS1	TF binding region
ENSG00000136143	Chromatin interaction
ENSG00000136159	Chromatin interaction
ENSG00000136156	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10397	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs11617143	1.00[CHB][hapmap]
rs11617714	0.90[ASN][1000 genomes]
rs11617894	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11618304	0.90[ASN][1000 genomes]
rs12561235	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13243	0.87[EUR][1000 genomes]
rs17071169	0.90[ASN][1000 genomes]
rs2025703	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2094196	1.00[CHB][hapmap]
rs41284209	0.90[ASN][1000 genomes]
rs4477588	0.83[EUR][1000 genomes]
rs45465203	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56097393	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56385117	0.87[EUR][1000 genomes]
rs7324919	0.87[EUR][1000 genomes]
rs7326861	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331746	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7335424	1.00[YRI][hapmap]
rs7335662	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7337521	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7339238	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7981492	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7981902	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs9562784	0.87[EUR][1000 genomes]
rs9562785	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562786	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562790	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9562791	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562794	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562795	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562797	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562798	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567956	0.86[EUR][1000 genomes]
rs9567957	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567966	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567967	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567970	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567974	0.90[ASN][1000 genomes]
rs9567975	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567977	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567978	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567981	0.90[ASN][1000 genomes]
rs9567982	1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567983	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567985	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567990	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs9567992	1.00[CHB][hapmap]
rs9634678	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[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	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48534400-48574400	Weak transcription	Small Intestine	intestine
2	chr13:48537400-48574400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:48543000-48574400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr13:48546600-48574400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr13:48546600-48574800	Weak transcription	Spleen	Spleen
6	chr13:48548800-48574400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:48551000-48574400	Weak transcription	HSMMtube	muscle
8	chr13:48560800-48574600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:48565400-48574800	Weak transcription	Gastric	stomach
10	chr13:48565600-48574400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr13:48565600-48574400	Weak transcription	Right Ventricle	heart
12	chr13:48567400-48574800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:48567800-48574400	Weak transcription	Esophagus	oesophagus
14	chr13:48567800-48574400	Weak transcription	Thymus	Thymus
15	chr13:48567800-48574800	Weak transcription	Pancreas	Pancrea
16	chr13:48568000-48574400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr13:48568000-48574400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:48568000-48574400	Weak transcription	Aorta	Aorta
19	chr13:48568000-48574400	Weak transcription	Fetal Thymus	thymus
20	chr13:48568000-48574400	Weak transcription	Left Ventricle	heart
21	chr13:48568000-48574600	Weak transcription	Lung	lung
22	chr13:48568200-48574400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr13:48568600-48574800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr13:48570000-48574400	Weak transcription	Placenta	Placenta
25	chr13:48570400-48574400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr13:48570600-48574400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr13:48571200-48574600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr13:48571600-48574400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr13:48571800-48574400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr13:48571800-48574800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:48572200-48574400	Enhancers	Colon Smooth Muscle	Colon
32	chr13:48572600-48574400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr13:48572800-48574400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr13:48573000-48574400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr13:48573000-48574400	Enhancers	Brain Cingulate Gyrus	brain
36	chr13:48573000-48574400	Weak transcription	Fetal Muscle Leg	muscle
37	chr13:48573000-48576600	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr13:48573400-48574400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr13:48573600-48574400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr13:48573600-48576200	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr13:48573800-48574400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr13:48573800-48574400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr13:48573800-48574400	Enhancers	Fetal Heart	heart
44	chr13:48573800-48574600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr13:48573800-48574800	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr13:48573800-48574800	Flanking Active TSS	Dnd41	blood
47	chr13:48573800-48575600	Active TSS	Duodenum Mucosa	Duodenum
48	chr13:48573800-48576400	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr13:48574000-48574400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:48574000-48574400	Enhancers	Primary B cells from cord blood	blood

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