Variant report

Variant	rs6686618
Chromosome Location	chr1:61809736-61809737
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:61809209..61811913-chr1:61823172..61825226,2	K562	blood:
2	chr1:61809086..61811561-chr1:61812317..61815281,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs41327150	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6678303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6678955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6679119	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6685656	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6685664	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6690890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6702714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538641	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS 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	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv1014023	chr1:61788310-61859074	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv534981	chr1:61788310-61859074	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61786000-61813600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:61801000-61818600	Weak transcription	K562	blood
3	chr1:61801200-61824600	Weak transcription	Gastric	stomach
4	chr1:61803000-61816200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:61804000-61813200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:61804000-61813200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:61804200-61812400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:61804200-61813200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:61804400-61809800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:61804400-61818200	Weak transcription	Fetal Brain Male	brain
11	chr1:61804400-61818400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:61804400-61818400	Weak transcription	Hela-S3	cervix
13	chr1:61804400-61851400	Weak transcription	Small Intestine	intestine
14	chr1:61804400-61854600	Weak transcription	Placenta	Placenta
15	chr1:61804600-61813200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:61804600-61818200	Weak transcription	Brain Angular Gyrus	brain
17	chr1:61804800-61813200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:61804800-61813200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:61804800-61822800	Weak transcription	Fetal Stomach	stomach
20	chr1:61805000-61810000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:61805000-61810200	Weak transcription	Stomach Mucosa	stomach
22	chr1:61805000-61818200	Weak transcription	A549	lung
23	chr1:61805000-61818400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:61805200-61810000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:61805600-61813200	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:61805600-61817600	Weak transcription	HUVEC	blood vessel
27	chr1:61805800-61809800	Weak transcription	HMEC	breast
28	chr1:61805800-61810000	Weak transcription	NHEK	skin
29	chr1:61805800-61813400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:61805800-61818000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:61805800-61818200	Weak transcription	Esophagus	oesophagus
32	chr1:61805800-61818600	Weak transcription	Lung	lung
33	chr1:61805800-61848800	Weak transcription	Pancreas	Pancrea
34	chr1:61806400-61810000	Weak transcription	Fetal Heart	heart
35	chr1:61807200-61810400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:61807400-61811200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:61808200-61810400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:61808200-61810800	Enhancers	Brain Anterior Caudate	brain
39	chr1:61808400-61810200	Enhancers	Brain Germinal Matrix	brain
40	chr1:61808600-61810000	Enhancers	Fetal Kidney	kidney
41	chr1:61808600-61810400	Enhancers	Colon Smooth Muscle	Colon
42	chr1:61808600-61810800	Enhancers	Liver	Liver
43	chr1:61808800-61810200	Genic enhancers	HepG2	liver
44	chr1:61809000-61810400	Enhancers	Aorta	Aorta
45	chr1:61809000-61810400	Enhancers	Fetal Intestine Small	intestine
46	chr1:61809000-61810800	Enhancers	Ovary	ovary
47	chr1:61809200-61809800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:61809200-61809800	Enhancers	Fetal Lung	lung
49	chr1:61809200-61810000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:61809200-61810600	Enhancers	Adipose Nuclei	Adipose

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