Variant report

Variant	rs41699
Chromosome Location	chr7:120639420-120639421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120590021..120592843-chr7:120639404..120643575,5	K562	blood:
2	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
3	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:

Variant related genes	Relation type
ENSG00000106034	Chromatin interaction
ENSG00000071243	Chromatin interaction
ENSG00000212628	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10245811	0.87[EUR][1000 genomes]
rs11976117	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12666371	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12671499	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16870531	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41696	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41700	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41701	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41705	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4730984	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62470917	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7782014	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7802570	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7802665	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 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	chr7:120635000-120640800	Enhancers	Dnd41	blood
5	chr7:120635800-120639800	Enhancers	Colon Smooth Muscle	Colon
6	chr7:120636000-120639600	Enhancers	Fetal Stomach	stomach
7	chr7:120636000-120639600	Enhancers	NHDF-Ad	bronchial
8	chr7:120636200-120640800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:120636400-120640600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:120637000-120639600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:120637000-120639600	Weak transcription	Fetal Lung	lung
12	chr7:120637000-120640000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:120637000-120640000	Weak transcription	HUVEC	blood vessel
14	chr7:120637000-120640400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:120637000-120641000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:120637000-120641400	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:120637000-120642000	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:120637000-120646800	Weak transcription	Placenta	Placenta
19	chr7:120637200-120639600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:120637200-120639600	Strong transcription	HSMM	muscle
21	chr7:120637200-120639800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:120637200-120639800	Weak transcription	Hela-S3	cervix
23	chr7:120637200-120640000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:120637200-120640000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:120637200-120640000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:120637200-120640000	Weak transcription	Psoas Muscle	Psoas
27	chr7:120637200-120640000	Weak transcription	Right Atrium	heart
28	chr7:120637200-120640000	Weak transcription	HSMMtube	muscle
29	chr7:120637200-120640200	Weak transcription	NH-A	brain
30	chr7:120637200-120640400	Enhancers	Rectal Smooth Muscle	rectum
31	chr7:120637200-120640800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr7:120637200-120640800	Weak transcription	Small Intestine	intestine
33	chr7:120637200-120641800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:120637200-120647000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:120637200-120663600	Weak transcription	Right Ventricle	heart
36	chr7:120637400-120642200	Weak transcription	Fetal Heart	heart
37	chr7:120637600-120639800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:120637600-120639800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:120637600-120640000	Weak transcription	Primary T cells from cord blood	blood
40	chr7:120637800-120640800	Enhancers	Fetal Kidney	kidney
41	chr7:120638200-120643600	Weak transcription	Left Ventricle	heart
42	chr7:120638400-120640000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:120638400-120640000	Enhancers	Osteobl	bone
44	chr7:120638800-120640600	Active TSS	Aorta	Aorta
45	chr7:120638800-120643800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr7:120639000-120639600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr7:120639000-120639800	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr7:120639000-120640200	Weak transcription	Ovary	ovary
49	chr7:120639000-120645000	Enhancers	Liver	Liver
50	chr7:120639200-120639800	Enhancers	Primary hematopoietic stem cells	blood

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