Variant report

Variant	rs11925433
Chromosome Location	chr3:53379453-53379454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53378987..53381493-chr3:53513545..53516327,2	K562	blood:
2	chr3:53379336..53381314-chr3:53710176..53712329,2	K562	blood:
3	chr3:53189408..53191760-chr3:53379077..53380692,2	MCF-7	breast:
4	chr3:53365993..53368934-chr3:53378363..53380732,2	K562	blood:

Variant related genes	Relation type
ENSG00000207109	Chromatin interaction
ENSG00000163932	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11919567	1.00[AMR][1000 genomes]
rs11920772	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11921961	1.00[AMR][1000 genomes]
rs17030942	0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052997	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17053116	1.00[AMR][1000 genomes]
rs58338691	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58488663	1.00[AMR][1000 genomes]
rs59254994	1.00[AMR][1000 genomes]
rs59437060	1.00[AMR][1000 genomes]
rs60350276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60675461	1.00[AMR][1000 genomes]
rs61299945	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6787817	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6788308	0.92[MKK][hapmap]
rs68140464	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954817	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954825	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954827	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72957594	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964389	1.00[AMR][1000 genomes]
rs72964394	1.00[AMR][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	nsv876801	chr3:53325905-53467506	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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	12 gene(s)	inside rSNPs	diseases
2	nsv876802	chr3:53325905-53470863	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53338200-53380200	Weak transcription	Fetal Brain Male	brain
2	chr3:53346600-53380600	Weak transcription	Spleen	Spleen
3	chr3:53352800-53380600	Weak transcription	Esophagus	oesophagus
4	chr3:53353000-53380600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:53358400-53380600	Weak transcription	Lung	lung
6	chr3:53360600-53380400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:53360800-53380600	Weak transcription	Gastric	stomach
8	chr3:53361400-53380200	Weak transcription	Colonic Mucosa	Colon
9	chr3:53362800-53380400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:53363200-53380600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:53363400-53380400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:53366200-53379800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:53366200-53380200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:53370600-53380600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:53371800-53380200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:53372400-53379800	Weak transcription	HSMMtube	muscle
17	chr3:53375000-53379800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:53375600-53379600	Weak transcription	HMEC	breast
19	chr3:53376800-53379600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:53376800-53380400	Weak transcription	Aorta	Aorta
21	chr3:53376800-53380400	Weak transcription	Left Ventricle	heart
22	chr3:53376800-53380400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:53376800-53380400	Weak transcription	Psoas Muscle	Psoas
24	chr3:53376800-53380400	Weak transcription	Right Ventricle	heart
25	chr3:53376800-53380600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:53376800-53380600	Weak transcription	Pancreas	Pancrea
27	chr3:53377000-53379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:53377000-53380200	Weak transcription	Brain Germinal Matrix	brain
29	chr3:53377200-53379800	Weak transcription	Brain Anterior Caudate	brain
30	chr3:53377200-53380000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:53377200-53380200	Weak transcription	Ovary	ovary
32	chr3:53377200-53380200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:53377200-53380400	Weak transcription	Thymus	Thymus
34	chr3:53377200-53380600	Weak transcription	Small Intestine	intestine
35	chr3:53377400-53379600	Weak transcription	Liver	Liver
36	chr3:53377400-53380000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:53377400-53380000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr3:53377400-53380200	Weak transcription	Fetal Kidney	kidney
39	chr3:53377400-53380600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:53377600-53379800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:53377600-53379800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:53377600-53379800	Weak transcription	K562	blood
43	chr3:53377600-53379800	Weak transcription	NHEK	skin
44	chr3:53377600-53380000	Weak transcription	Fetal Intestine Large	intestine
45	chr3:53377600-53380200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:53377800-53379800	Weak transcription	Fetal Brain Female	brain
47	chr3:53377800-53380000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:53377800-53380400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:53378000-53379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:53378000-53379800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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