Variant report

Variant	rs74092323
Chromosome Location	chr1:78352388-78352389
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	chr1:78351152..78352744-chr1:78356404..78358036,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17098321	1.00[EUR][1000 genomes]
rs17101286	1.00[EUR][1000 genomes]
rs35178440	1.00[EUR][1000 genomes]
rs55717739	1.00[EUR][1000 genomes]
rs56010524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58120905	1.00[EUR][1000 genomes]
rs59338720	1.00[EUR][1000 genomes]
rs60000721	1.00[EUR][1000 genomes]
rs60658102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61655329	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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092325	0.96[AFR][1000 genomes];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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78282800-78353400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:78298600-78352400	Weak transcription	Right Ventricle	heart
3	chr1:78299600-78353800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:78301400-78353200	Weak transcription	HSMMtube	muscle
5	chr1:78309200-78352400	Weak transcription	Aorta	Aorta
6	chr1:78312000-78353000	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:78313000-78353200	Weak transcription	HUVEC	blood vessel
8	chr1:78324600-78353800	Weak transcription	Esophagus	oesophagus
9	chr1:78327200-78353600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:78327400-78353800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:78333400-78353000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:78333400-78353800	Weak transcription	Lung	lung
13	chr1:78333600-78354000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:78333800-78352600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:78333800-78353800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:78334400-78352600	Weak transcription	Left Ventricle	heart
17	chr1:78334400-78352600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:78334400-78353000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:78334400-78353200	Weak transcription	Fetal Lung	lung
20	chr1:78334400-78353600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:78334400-78353600	Weak transcription	Adipose Nuclei	Adipose
22	chr1:78334400-78353800	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:78334400-78353800	Weak transcription	Fetal Kidney	kidney
24	chr1:78334600-78352600	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:78334600-78353000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:78334600-78353200	Weak transcription	HSMM	muscle
27	chr1:78334600-78353200	Weak transcription	Osteobl	bone
28	chr1:78334600-78353600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:78334600-78353600	Weak transcription	Fetal Brain Female	brain
30	chr1:78334600-78353800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:78334600-78353800	Weak transcription	Placenta	Placenta
32	chr1:78334600-78353800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:78337000-78353600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:78338600-78353400	Weak transcription	Fetal Intestine Small	intestine
35	chr1:78340800-78353800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:78341000-78353200	Weak transcription	NHDF-Ad	bronchial
37	chr1:78341000-78353600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:78341000-78353800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:78341200-78353600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:78341200-78353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:78341200-78353800	Weak transcription	Fetal Intestine Large	intestine
42	chr1:78341200-78353800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:78341400-78352400	Weak transcription	HMEC	breast
44	chr1:78341400-78352600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:78341400-78353400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:78341400-78353400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:78341400-78353600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:78341400-78353600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:78341400-78353800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:78341600-78353000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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