Variant report

Variant	rs74098803
Chromosome Location	chr1:85825077-85825078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85823950..85826978-chr1:85828513..85831070,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57416273	1.00[AFR][1000 genomes]
rs74096891	0.86[AFR][1000 genomes]
rs74096892	0.87[AFR][1000 genomes]
rs74096901	0.93[AFR][1000 genomes]
rs74098805	1.00[AFR][1000 genomes]
rs74098806	1.00[AFR][1000 genomes]
rs74098807	0.94[AFR][1000 genomes]
rs74098808	0.94[AFR][1000 genomes]
rs74098816	0.81[AFR][1000 genomes]
rs74098818	0.81[AFR][1000 genomes]
rs74098825	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr1:85809200-85826000	Weak transcription	Fetal Brain Female	brain
2	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:85809400-85826800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:85809400-85826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:85809600-85828800	Weak transcription	Brain Anterior Caudate	brain
6	chr1:85809800-85825400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:85809800-85826000	Weak transcription	Stomach Mucosa	stomach
8	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
9	chr1:85816000-85831400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
11	chr1:85816200-85826000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:85816400-85829000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:85816600-85826600	Weak transcription	Adipose Nuclei	Adipose
14	chr1:85816600-85826800	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:85816600-85827400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:85816600-85836800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:85816800-85826800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:85818200-85826600	Weak transcription	Fetal Intestine Large	intestine
19	chr1:85818200-85826800	Weak transcription	Fetal Stomach	stomach
20	chr1:85822800-85826600	Weak transcription	Fetal Kidney	kidney
21	chr1:85823000-85825600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:85823200-85825600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:85823200-85826000	Weak transcription	Liver	Liver
24	chr1:85823200-85827000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:85823200-85836800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:85823400-85825400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:85823600-85826200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:85823800-85825200	Genic enhancers	HSMM	muscle
29	chr1:85824000-85826200	Weak transcription	HepG2	liver
30	chr1:85824200-85825600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:85824400-85826000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:85824400-85826600	Enhancers	NHDF-Ad	bronchial
33	chr1:85824400-85833800	Weak transcription	Fetal Intestine Small	intestine
34	chr1:85824600-85825600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:85824600-85826000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:85824600-85826000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:85824600-85826400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:85824600-85827600	Enhancers	A549	lung
39	chr1:85824600-85829600	Enhancers	NHLF	lung
40	chr1:85824800-85825200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:85824800-85825200	Enhancers	Psoas Muscle	Psoas
42	chr1:85824800-85825200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:85824800-85825200	Enhancers	NHEK	skin
44	chr1:85824800-85825800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:85824800-85827000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:85824800-85827600	Enhancers	HSMMtube	muscle
47	chr1:85824800-85827600	Enhancers	NH-A	brain
48	chr1:85824800-85828400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:85825000-85825200	Enhancers	Esophagus	oesophagus
50	chr1:85825000-85825200	Flanking Active TSS	Osteobl	bone

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