Variant report

Variant	rs11971050
Chromosome Location	chr7:96765640-96765641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65266389..65266952-chr7:96765475..96765975,2	Hela-S3	cervix:
2	chr7:96722317..96724979-chr7:96765637..96768618,2	MCF-7	breast:
3	chr7:96765006..96767658-chr7:96799778..96802504,2	K562	blood:

Variant related genes	Relation type
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11978826	0.91[AFR][1000 genomes]
rs11984263	1.00[AFR][1000 genomes]
rs57083772	1.00[AFR][1000 genomes]
rs73708855	1.00[AFR][1000 genomes]
rs73708860	1.00[AFR][1000 genomes]
rs73708867	1.00[AFR][1000 genomes]
rs73708878	1.00[AFR][1000 genomes]

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	nsv1019725	chr7:96749866-96850819	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539029	chr7:96749866-96850819	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3389507	chr7:96764366-96766314	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96747600-96768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:96747800-96768200	Weak transcription	Aorta	Aorta
3	chr7:96748400-96767200	Weak transcription	Fetal Stomach	stomach
4	chr7:96748400-96768200	Weak transcription	Right Ventricle	heart
5	chr7:96748400-96768400	Weak transcription	Psoas Muscle	Psoas
6	chr7:96749000-96768200	Weak transcription	Right Atrium	heart
7	chr7:96749200-96768000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:96749400-96768000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:96749400-96768200	Weak transcription	Primary T cells from cord blood	blood
10	chr7:96752400-96766000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:96755000-96766800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:96755000-96768000	Weak transcription	Adipose Nuclei	Adipose
13	chr7:96756200-96767800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:96756600-96766400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:96756600-96768000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:96756600-96768000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:96759200-96768400	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:96760000-96767200	Weak transcription	Fetal Intestine Small	intestine
19	chr7:96760000-96768000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:96760000-96768000	Weak transcription	Spleen	Spleen
21	chr7:96760000-96768200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:96760000-96768200	Weak transcription	Esophagus	oesophagus
23	chr7:96760200-96767800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr7:96760200-96768000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:96760200-96768200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:96760400-96766400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:96760400-96766600	Weak transcription	K562	blood
28	chr7:96760400-96767400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:96760400-96768000	Weak transcription	Liver	Liver
30	chr7:96760400-96768000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:96760400-96768200	Weak transcription	Gastric	stomach
32	chr7:96760400-96768200	Weak transcription	Left Ventricle	heart
33	chr7:96760400-96796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:96762400-96766400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:96762800-96766600	Weak transcription	Primary B cells from cord blood	blood
36	chr7:96762800-96768200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:96762800-96768600	Weak transcription	Fetal Lung	lung
38	chr7:96763000-96766400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:96763200-96766800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:96763600-96767400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:96764000-96766400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:96764000-96768000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:96764400-96767400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:96764400-96773000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:96764600-96767000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:96764800-96767200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:96764800-96767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:96764800-96768200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:96765000-96768000	Weak transcription	Fetal Intestine Large	intestine
50	chr7:96765000-96768600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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