Variant report

Variant	rs1127607
Chromosome Location	chr7:33046044-33046045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:33045709..33047720-chr7:33048336..33051213,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17473365	1.00[ASN][1000 genomes]
rs67608094	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953448	1.00[ASN][1000 genomes]
rs73093571	1.00[ASN][1000 genomes]
rs73095309	1.00[ASN][1000 genomes]
rs73095315	1.00[ASN][1000 genomes]
rs73095326	1.00[ASN][1000 genomes]
rs73095361	1.00[ASN][1000 genomes]
rs73095378	1.00[ASN][1000 genomes]
rs73096212	1.00[ASN][1000 genomes]
rs73096233	1.00[ASN][1000 genomes]
rs73098230	1.00[ASN][1000 genomes]
rs73098242	1.00[ASN][1000 genomes]
rs73098252	1.00[ASN][1000 genomes]
rs73098273	1.00[ASN][1000 genomes]
rs73103770	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105656	1.00[ASN][1000 genomes]
rs73107303	1.00[ASN][1000 genomes]
rs73107315	1.00[ASN][1000 genomes]
rs7801939	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	esv14217	chr7:32999213-33053044	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33003800-33064200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:33012200-33056400	Weak transcription	Fetal Kidney	kidney
3	chr7:33012600-33077600	Weak transcription	Psoas Muscle	Psoas
4	chr7:33015200-33053200	Weak transcription	Brain Anterior Caudate	brain
5	chr7:33020400-33052800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:33024000-33064400	Weak transcription	Brain Angular Gyrus	brain
7	chr7:33026400-33052800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:33026800-33046200	Weak transcription	Spleen	Spleen
9	chr7:33037800-33052200	Weak transcription	Fetal Brain Female	brain
10	chr7:33038200-33052800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:33038200-33055000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:33038200-33080800	Weak transcription	Fetal Brain Male	brain
13	chr7:33038400-33051800	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:33038600-33051200	Weak transcription	HSMM	muscle
15	chr7:33038600-33051400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr7:33038600-33052000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:33038600-33053000	Weak transcription	HMEC	breast
18	chr7:33038800-33048000	Weak transcription	Dnd41	blood
19	chr7:33038800-33051000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:33038800-33051200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:33038800-33051200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr7:33038800-33051800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:33038800-33051800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:33038800-33052800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:33038800-33052800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:33038800-33052800	Weak transcription	Colonic Mucosa	Colon
27	chr7:33038800-33053000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:33038800-33053000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:33038800-33054800	Weak transcription	NH-A	brain
30	chr7:33039000-33052200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr7:33039000-33052400	Weak transcription	NHLF	lung
32	chr7:33039000-33052600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:33039000-33053000	Weak transcription	NHDF-Ad	bronchial
34	chr7:33039200-33049800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:33039200-33065000	Weak transcription	Brain Germinal Matrix	brain
36	chr7:33039400-33049600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:33039400-33052000	Weak transcription	Fetal Heart	heart
38	chr7:33039400-33052000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:33039400-33052600	Weak transcription	Fetal Lung	lung
40	chr7:33039400-33052800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:33039400-33052800	Weak transcription	Stomach Mucosa	stomach
42	chr7:33039400-33053000	Weak transcription	HepG2	liver
43	chr7:33039600-33049800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:33039600-33052800	Weak transcription	Brain Substantia Nigra	brain
45	chr7:33040000-33057000	Weak transcription	HUVEC	blood vessel
46	chr7:33041200-33051200	Weak transcription	Fetal Thymus	thymus
47	chr7:33041600-33046800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:33041800-33048600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:33042200-33047000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:33042200-33047000	Strong transcription	Fetal Muscle Trunk	muscle

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