Variant report

Variant	rs6979290
Chromosome Location	chr7:140269719-140269720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140262539..140265116-chr7:140268602..140271008,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10227869	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10255623	1.00[AMR][1000 genomes]
rs10273005	1.00[AMR][1000 genomes]
rs11973083	1.00[EUR][1000 genomes]
rs11982424	1.00[EUR][1000 genomes]
rs11983453	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs269251	1.00[EUR][1000 genomes]
rs269252	1.00[EUR][1000 genomes]
rs269253	1.00[EUR][1000 genomes]
rs269260	1.00[EUR][1000 genomes]
rs55816014	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56711326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57565761	1.00[EUR][1000 genomes]
rs57960333	1.00[EUR][1000 genomes]
rs58118476	1.00[EUR][1000 genomes]
rs59489402	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60480710	1.00[EUR][1000 genomes]
rs60901124	1.00[EUR][1000 genomes]
rs61333130	1.00[EUR][1000 genomes]
rs61737088	1.00[EUR][1000 genomes]
rs61737090	1.00[EUR][1000 genomes]
rs6951766	1.00[AMR][1000 genomes]
rs6952059	1.00[EUR][1000 genomes]
rs6957365	1.00[EUR][1000 genomes]
rs6964971	1.00[EUR][1000 genomes]
rs6964982	1.00[EUR][1000 genomes]
rs6972562	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73491595	1.00[EUR][1000 genomes]
rs73502154	1.00[EUR][1000 genomes]
rs73736617	1.00[EUR][1000 genomes]
rs73736622	1.00[EUR][1000 genomes]
rs73736632	1.00[EUR][1000 genomes]
rs73736633	1.00[EUR][1000 genomes]
rs7780213	1.00[AMR][1000 genomes]
rs7795017	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7804236	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802929	chr7:140212566-140285491	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140247000-140276400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr7:140247000-140297400	Weak transcription	Spleen	Spleen
3	chr7:140260200-140273400	Weak transcription	Fetal Brain Male	brain
4	chr7:140261800-140284000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:140263400-140278400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:140263800-140270400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:140263800-140274800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:140263800-140276000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:140263800-140277800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:140263800-140286800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:140263800-140303600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:140263800-140303600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:140263800-140305200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:140263800-140305600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:140264000-140272800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:140264600-140290400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:140265200-140271400	Weak transcription	Fetal Kidney	kidney
18	chr7:140265200-140272800	Weak transcription	Brain Substantia Nigra	brain
19	chr7:140265200-140304400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:140265400-140271400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:140265800-140274000	Strong transcription	Fetal Brain Female	brain
22	chr7:140266200-140275400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:140266400-140285200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:140266600-140269800	Enhancers	Placenta	Placenta
25	chr7:140266600-140270600	Enhancers	Left Ventricle	heart
26	chr7:140266600-140273200	Weak transcription	Fetal Intestine Large	intestine
27	chr7:140267000-140270400	Strong transcription	Fetal Intestine Small	intestine
28	chr7:140267600-140271400	Weak transcription	HMEC	breast
29	chr7:140267600-140271600	Weak transcription	Brain Anterior Caudate	brain
30	chr7:140267600-140272600	Weak transcription	NHDF-Ad	bronchial
31	chr7:140267600-140272800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:140267600-140272800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:140267600-140274800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:140267600-140281000	Strong transcription	Fetal Muscle Leg	muscle
35	chr7:140267800-140269800	Strong transcription	Brain Hippocampus Middle	brain
36	chr7:140267800-140271400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:140267800-140272600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:140267800-140272600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:140267800-140273200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:140267800-140274200	Strong transcription	Brain Germinal Matrix	brain
41	chr7:140267800-140275000	Strong transcription	Fetal Stomach	stomach
42	chr7:140267800-140275200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:140267800-140281000	Weak transcription	Brain Angular Gyrus	brain
44	chr7:140267800-140281200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:140267800-140283000	Weak transcription	Liver	Liver
46	chr7:140267800-140285000	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:140267800-140285000	Weak transcription	NH-A	brain
48	chr7:140267800-140290600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:140267800-140291200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:140267800-140300800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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