Variant report

Variant	rs11761621
Chromosome Location	chr7:127643038-127643039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127641392..127644240-chr7:127644779..127647605,2	MCF-7	breast:
2	chr7:127635606..127639258-chr7:127641258..127643536,3	K562	blood:
3	chr7:127628097..127629726-chr7:127640930..127643709,2	K562	blood:
4	chr7:127642807..127644804-chr7:127982314..127984455,2	K562	blood:
5	chr7:127627877..127629726-chr7:127640099..127643709,3	K562	blood:

Variant related genes	Relation type
ENSG00000106344	Chromatin interaction
ENSG00000238750	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3823996	0.87[ASN][1000 genomes]
rs73457801	0.81[ASN][1000 genomes]
rs7802695	0.85[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127621000-127643600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:127627200-127644800	Weak transcription	Fetal Brain Female	brain
3	chr7:127628400-127648400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:127630400-127644000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:127631200-127655600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:127631800-127660800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:127632400-127643400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:127632400-127643600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:127632400-127643800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:127632600-127657600	Weak transcription	HUVEC	blood vessel
11	chr7:127633600-127643600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:127634200-127643400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:127634200-127643600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:127634200-127657800	Weak transcription	NH-A	brain
15	chr7:127634600-127646000	Weak transcription	Thymus	Thymus
16	chr7:127635600-127660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:127635800-127660600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:127636000-127646000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:127636000-127662400	Weak transcription	NHDF-Ad	bronchial
20	chr7:127636200-127644800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:127636200-127645200	Weak transcription	Fetal Stomach	stomach
22	chr7:127636200-127646000	Weak transcription	Fetal Brain Male	brain
23	chr7:127636400-127643600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:127636600-127643800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:127636600-127650400	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:127636600-127650600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:127636800-127643200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:127636800-127643800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:127636800-127652200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:127637000-127643800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:127637000-127645200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:127637000-127645800	Weak transcription	Small Intestine	intestine
33	chr7:127637000-127658800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:127637200-127643800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:127637400-127650200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:127637600-127645200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:127637600-127650600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:127637600-127651200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:127637600-127652400	Weak transcription	A549	lung
40	chr7:127637800-127643800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:127637800-127646400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:127637800-127650400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:127637800-127650600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:127637800-127650800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:127637800-127652600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:127638000-127653000	Weak transcription	NHLF	lung
47	chr7:127638200-127652000	Weak transcription	HMEC	breast
48	chr7:127638600-127643600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:127639000-127645200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:127639200-127643400	Weak transcription	Fetal Heart	heart

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