Variant report

Variant	rs60658102
Chromosome Location	chr1:78306541-78306542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17101286	1.00[EUR][1000 genomes]
rs35178440	1.00[EUR][1000 genomes]
rs55717739	1.00[EUR][1000 genomes]
rs55872024	1.00[EUR][1000 genomes]
rs56010524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58120905	1.00[EUR][1000 genomes]
rs59338720	1.00[EUR][1000 genomes]
rs59883033	1.00[EUR][1000 genomes]
rs60000721	1.00[EUR][1000 genomes]
rs61553400	1.00[EUR][1000 genomes]
rs61655329	1.00[EUR][1000 genomes]
rs74090649	1.00[EUR][1000 genomes]
rs74090653	1.00[EUR][1000 genomes]
rs74090669	1.00[EUR][1000 genomes]
rs74090673	1.00[EUR][1000 genomes]
rs74090678	1.00[EUR][1000 genomes]
rs74090686	1.00[EUR][1000 genomes]
rs74092304	1.00[EUR][1000 genomes]
rs74092305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092337	1.00[EUR][1000 genomes]
rs74092338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092342	1.00[EUR][1000 genomes]
rs74092352	1.00[EUR][1000 genomes]
rs74092353	1.00[AMR][1000 genomes];1.00[EUR][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	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	98 gene(s)	inside rSNPs	diseases
4	nsv1004327	chr1:78212804-78352385	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78252200-78315800	Weak transcription	Esophagus	oesophagus
2	chr1:78275000-78312800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:78280600-78325600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:78281000-78308800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:78281200-78316400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:78282800-78353400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:78284600-78333000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:78285000-78310200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:78285600-78332000	Weak transcription	Spleen	Spleen
10	chr1:78285800-78308800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:78286400-78333200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:78286600-78312800	Weak transcription	Thymus	Thymus
13	chr1:78286600-78328400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:78287400-78310800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:78288200-78309000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:78290200-78334200	Weak transcription	Gastric	stomach
17	chr1:78294200-78309200	Weak transcription	Brain Germinal Matrix	brain
18	chr1:78294800-78309000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:78295200-78318400	Weak transcription	Ovary	ovary
20	chr1:78295400-78309000	Weak transcription	Left Ventricle	heart
21	chr1:78296800-78329000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:78298400-78309000	Weak transcription	Fetal Thymus	thymus
23	chr1:78298400-78340400	Weak transcription	Colonic Mucosa	Colon
24	chr1:78298600-78327000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:78298600-78352400	Weak transcription	Right Ventricle	heart
26	chr1:78298800-78332800	Weak transcription	Fetal Kidney	kidney
27	chr1:78299000-78308600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:78299000-78308800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:78299000-78312000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:78299000-78315400	Weak transcription	Fetal Brain Female	brain
31	chr1:78299200-78314800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:78299400-78309000	Weak transcription	Aorta	Aorta
33	chr1:78299400-78309000	Weak transcription	Small Intestine	intestine
34	chr1:78299400-78340200	Weak transcription	NHEK	skin
35	chr1:78299400-78341200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:78299600-78340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:78299600-78343000	Weak transcription	K562	blood
38	chr1:78299600-78353800	Weak transcription	Brain Substantia Nigra	brain
39	chr1:78299800-78308800	Weak transcription	GM12878-XiMat	blood
40	chr1:78300000-78312800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:78300200-78309000	Weak transcription	Placenta	Placenta
42	chr1:78300200-78310400	Weak transcription	Psoas Muscle	Psoas
43	chr1:78300200-78313200	Weak transcription	Pancreas	Pancrea
44	chr1:78300200-78331600	Weak transcription	Lung	lung
45	chr1:78300200-78332600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:78300800-78308800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:78300800-78309000	Weak transcription	Liver	Liver
48	chr1:78300800-78309000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:78300800-78313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:78300800-78320600	Weak transcription	Brain Inferior Temporal Lobe	brain

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