Variant report

Variant	rs7996336
Chromosome Location	chr13:50320056-50320057
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	chr13:50318990..50321781-chr13:50323310..50326144,3	MCF-7	breast:
2	chr13:50264386..50266994-chr13:50318266..50320898,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123179	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57317256	1.00[AMR][1000 genomes]
rs57787171	1.00[AMR][1000 genomes]
rs57902953	1.00[AMR][1000 genomes]
rs58438849	1.00[AMR][1000 genomes]
rs59609469	1.00[AMR][1000 genomes]
rs7983369	0.91[AFR][1000 genomes]
rs7989757	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7999663	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1818134	chr13:50306897-50374102	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv900074	chr13:50317104-50381016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266400-50349000	Weak transcription	Esophagus	oesophagus
2	chr13:50273200-50326000	Weak transcription	Aorta	Aorta
3	chr13:50273200-50333800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:50290000-50324000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:50290000-50334000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr13:50293200-50326000	Weak transcription	Fetal Brain Male	brain
7	chr13:50294200-50324000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:50294400-50333000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr13:50296200-50330400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:50296400-50320200	Weak transcription	Spleen	Spleen
11	chr13:50296600-50330400	Weak transcription	Small Intestine	intestine
12	chr13:50296600-50338600	Weak transcription	Ovary	ovary
13	chr13:50297000-50322400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr13:50298000-50327600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:50299200-50327600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr13:50300600-50345600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:50300800-50321800	Weak transcription	Brain Anterior Caudate	brain
18	chr13:50301200-50323600	Weak transcription	Colon Smooth Muscle	Colon
19	chr13:50301200-50327800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr13:50302800-50333800	Weak transcription	Thymus	Thymus
21	chr13:50303200-50334000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:50304400-50321400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr13:50305800-50320200	Weak transcription	Fetal Muscle Leg	muscle
24	chr13:50306000-50320200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr13:50306000-50324000	Weak transcription	HSMMtube	muscle
26	chr13:50306000-50351600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr13:50306200-50323200	Weak transcription	Brain Germinal Matrix	brain
28	chr13:50306200-50334200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:50306200-50336200	Weak transcription	Adipose Nuclei	Adipose
30	chr13:50306600-50323200	Weak transcription	NHEK	skin
31	chr13:50306800-50333800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr13:50308000-50320600	Weak transcription	A549	lung
33	chr13:50308000-50356000	Weak transcription	Fetal Kidney	kidney
34	chr13:50308200-50320200	Weak transcription	Brain Hippocampus Middle	brain
35	chr13:50308200-50321400	Weak transcription	Brain Substantia Nigra	brain
36	chr13:50308200-50324000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr13:50308200-50324200	Weak transcription	Psoas Muscle	Psoas
38	chr13:50308200-50324200	Weak transcription	NHLF	lung
39	chr13:50308200-50327400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr13:50308200-50327600	Weak transcription	Lung	lung
41	chr13:50311000-50321000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:50313200-50321000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:50313400-50321000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr13:50313400-50321200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr13:50314800-50320400	Weak transcription	Pancreas	Pancrea
46	chr13:50314800-50321200	Strong transcription	Dnd41	blood
47	chr13:50314800-50322000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr13:50314800-50327600	Weak transcription	Gastric	stomach
49	chr13:50315000-50320600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr13:50315200-50320400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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