Variant report

Variant	rs41698
Chromosome Location	chr7:120637844-120637845
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	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
2	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:

Variant related genes	Relation type
ENSG00000212628	Chromatin interaction
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10229719	0.93[ASN][1000 genomes]
rs12672149	0.93[ASN][1000 genomes]
rs2013083	0.93[ASN][1000 genomes]
rs2013087	0.93[ASN][1000 genomes]
rs2215786	0.93[ASN][1000 genomes]
rs2215790	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2896299	0.93[ASN][1000 genomes]
rs3944026	0.93[ASN][1000 genomes]
rs4727915	0.93[ASN][1000 genomes]
rs4730985	0.93[ASN][1000 genomes]
rs4730987	0.93[ASN][1000 genomes]
rs6953795	0.93[ASN][1000 genomes]
rs6973457	0.93[ASN][1000 genomes]
rs73429864	0.94[EUR][1000 genomes]
rs7789501	0.93[ASN][1000 genomes]
rs7808535	0.93[ASN][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	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030988	chr7:120636796-120672504	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120631200-120640400	Weak transcription	Brain Anterior Caudate	brain
2	chr7:120632400-120641400	Transcr. at gene 5' and 3'	K562	blood
3	chr7:120634200-120644000	Weak transcription	Spleen	Spleen
4	chr7:120634600-120638400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr7:120635000-120640800	Enhancers	Dnd41	blood
6	chr7:120635200-120638600	Weak transcription	Ovary	ovary
7	chr7:120635800-120639800	Enhancers	Colon Smooth Muscle	Colon
8	chr7:120636000-120638200	Enhancers	Left Ventricle	heart
9	chr7:120636000-120639600	Enhancers	Fetal Stomach	stomach
10	chr7:120636000-120639600	Enhancers	NHDF-Ad	bronchial
11	chr7:120636200-120640800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr7:120636400-120640600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr7:120637000-120638800	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr7:120637000-120638800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:120637000-120639400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:120637000-120639600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:120637000-120639600	Weak transcription	Fetal Lung	lung
18	chr7:120637000-120640000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:120637000-120640000	Weak transcription	HUVEC	blood vessel
20	chr7:120637000-120640400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr7:120637000-120641000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:120637000-120641400	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:120637000-120642000	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:120637000-120646800	Weak transcription	Placenta	Placenta
25	chr7:120637200-120638000	Weak transcription	Liver	Liver
26	chr7:120637200-120638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:120637200-120638400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr7:120637200-120639600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:120637200-120639600	Strong transcription	HSMM	muscle
30	chr7:120637200-120639800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:120637200-120639800	Weak transcription	Hela-S3	cervix
32	chr7:120637200-120640000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:120637200-120640000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:120637200-120640000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:120637200-120640000	Weak transcription	Psoas Muscle	Psoas
36	chr7:120637200-120640000	Weak transcription	Right Atrium	heart
37	chr7:120637200-120640000	Weak transcription	HSMMtube	muscle
38	chr7:120637200-120640200	Weak transcription	NH-A	brain
39	chr7:120637200-120640400	Enhancers	Rectal Smooth Muscle	rectum
40	chr7:120637200-120640800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr7:120637200-120640800	Weak transcription	Small Intestine	intestine
42	chr7:120637200-120641800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:120637200-120647000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:120637200-120663600	Weak transcription	Right Ventricle	heart
45	chr7:120637400-120638200	Weak transcription	NHLF	lung
46	chr7:120637400-120638400	Weak transcription	Osteobl	bone
47	chr7:120637400-120638800	Weak transcription	Aorta	Aorta
48	chr7:120637400-120639000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:120637400-120642200	Weak transcription	Fetal Heart	heart
50	chr7:120637600-120638600	Weak transcription	Adipose Nuclei	Adipose

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