Variant report

Variant	rs7997429
Chromosome Location	chr13:95241881-95241882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95236767..95238765-chr13:95240414..95242453,2	MCF-7	breast:
2	chr13:95239604..95244958-chr13:95245816..95249752,6	K562	blood:

Variant related genes	Relation type
ENSG00000088451	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1028805	1.00[CHB][hapmap]
rs16949940	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs2892681	1.00[CHB][hapmap]
rs4318084	1.00[CHB][hapmap]
rs4773798	1.00[CHB][hapmap]
rs55960139	0.87[AMR][1000 genomes]
rs61965607	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7319696	1.00[CHB][hapmap]
rs7322453	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs7330899	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7336371	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8001569	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9301978	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9516436	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs9524537	0.88[AFR][1000 genomes]
rs9524538	0.81[EUR][1000 genomes]
rs9524552	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9524570	0.89[CEU][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9590036	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9590039	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs9590043	0.90[CEU][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9590075	1.00[CHB][hapmap]
rs9590076	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832685	chr13:95179676-95279966	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr13:95219600-95245600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr13:95221400-95242800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr13:95221400-95245800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr13:95222000-95245000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr13:95222000-95247200	Weak transcription	Fetal Brain Male	brain
6	chr13:95222200-95245000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:95222200-95245200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr13:95223000-95245800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr13:95224200-95246400	Weak transcription	Fetal Heart	heart
10	chr13:95224200-95246400	Weak transcription	Stomach Mucosa	stomach
11	chr13:95224400-95242800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr13:95225000-95247400	Weak transcription	Fetal Brain Female	brain
13	chr13:95225200-95242800	Weak transcription	Small Intestine	intestine
14	chr13:95226000-95245800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr13:95226200-95245400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:95226800-95246800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:95233000-95246600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:95233200-95242800	Weak transcription	NHEK	skin
19	chr13:95233200-95246600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr13:95233200-95247000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr13:95233400-95247600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr13:95233800-95242800	Weak transcription	Brain Substantia Nigra	brain
23	chr13:95234200-95244600	Weak transcription	Esophagus	oesophagus
24	chr13:95234400-95246800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:95234400-95246800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr13:95234400-95247000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:95234600-95247200	Weak transcription	Lung	lung
28	chr13:95234800-95246400	Weak transcription	Colon Smooth Muscle	Colon
29	chr13:95235000-95246800	Weak transcription	Spleen	Spleen
30	chr13:95235200-95243600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr13:95235200-95246400	Weak transcription	Brain Anterior Caudate	brain
32	chr13:95235200-95246600	Weak transcription	Psoas Muscle	Psoas
33	chr13:95235200-95246800	Weak transcription	Right Ventricle	heart
34	chr13:95235200-95247000	Weak transcription	Ovary	ovary
35	chr13:95235200-95247400	Weak transcription	Gastric	stomach
36	chr13:95235400-95242800	Weak transcription	Colonic Mucosa	Colon
37	chr13:95235400-95246400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr13:95235400-95246400	Weak transcription	Brain Hippocampus Middle	brain
39	chr13:95235600-95242600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr13:95235600-95243200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr13:95235600-95243600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr13:95235600-95244000	Weak transcription	Fetal Kidney	kidney
43	chr13:95235600-95246800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:95235600-95246800	Weak transcription	Pancreas	Pancrea
45	chr13:95235600-95247000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr13:95235600-95247400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr13:95235600-95247400	Weak transcription	Aorta	Aorta
48	chr13:95235600-95247400	Weak transcription	HSMMtube	muscle
49	chr13:95235800-95243000	Weak transcription	Thymus	Thymus
50	chr13:95236000-95242600	Weak transcription	HMEC	breast

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