Variant report

Variant	rs6684386
Chromosome Location	chr1:175894969-175894970
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	chr1:175889913..175891691-chr1:175893710..175896075,2	K562	blood:

Variant related genes	Relation type
ENSG00000230777	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2177205	0.89[AFR][1000 genomes]
rs2861628	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7536784	0.80[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	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS 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	33 gene(s)	inside rSNPs	diseases
3	nsv946515	chr1:175890137-175903482	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175863200-175906400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:175874400-175945600	Weak transcription	A549	lung
3	chr1:175877800-175902400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:175879800-175896000	Weak transcription	Fetal Stomach	stomach
5	chr1:175880000-175897200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:175880000-175897400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:175880000-175937800	Weak transcription	HSMMtube	muscle
8	chr1:175880400-175904400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:175880600-175896200	Weak transcription	Placenta	Placenta
10	chr1:175880600-175896400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:175881000-175897200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:175881000-175905200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:175881000-175924200	Weak transcription	Brain Angular Gyrus	brain
14	chr1:175881400-175896600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:175881400-175897400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:175882000-175895000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:175882600-175895600	Weak transcription	Lung	lung
18	chr1:175882600-175902200	Weak transcription	Aorta	Aorta
19	chr1:175882600-175910200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:175883200-175895000	Weak transcription	Adipose Nuclei	Adipose
21	chr1:175883200-175908200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:175884200-175897400	Weak transcription	Pancreas	Pancrea
23	chr1:175885800-175896400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:175885800-175897200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:175885800-175897400	Weak transcription	Left Ventricle	heart
26	chr1:175886000-175895000	Weak transcription	Ovary	ovary
27	chr1:175886200-175896200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:175886400-175929400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:175887600-175895000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:175887800-175896400	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:175887800-175929800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:175889200-175937800	Weak transcription	Osteobl	bone
33	chr1:175889400-175896800	Weak transcription	Fetal Lung	lung
34	chr1:175890000-175895800	Weak transcription	Brain Germinal Matrix	brain
35	chr1:175890000-175896400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:175891400-175908800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:175892000-175908800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:175892200-175897000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:175892400-175940600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:175892600-175897000	Weak transcription	Dnd41	blood
41	chr1:175893000-175896200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:175893200-175943000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:175893600-175897200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:175893800-175896600	Weak transcription	Primary B cells from cord blood	blood
45	chr1:175894600-175895400	Strong transcription	HSMM	muscle
46	chr1:175894600-175895600	Strong transcription	Fetal Brain Female	brain
47	chr1:175894600-175896200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:175894800-175895600	Strong transcription	Primary T cells from cord blood	blood
49	chr1:175894800-175896000	Strong transcription	Fetal Muscle Leg	muscle

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