Variant report

Variant	rs35542031
Chromosome Location	chr6:20218011-20218012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:20211598..20216001-chr6:20216238..20220136,10	K562	blood:
2	chr6:20216776..20219690-chr6:20224982..20227317,2	MCF-7	breast:
3	chr6:20217096..20219531-chr6:20220543..20223261,2	MCF-7	breast:
4	chr6:20215918..20219378-chr6:20401289..20404111,5	K562	blood:

Variant related genes	Relation type
ENSG00000112242	Chromatin interaction
ENSG00000172197	Chromatin interaction
ENSG00000227803	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12194843	1.00[AFR][1000 genomes]
rs12204103	1.00[AFR][1000 genomes]
rs71560119	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029729	chr6:20113226-20235122	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538155	chr6:20113226-20235122	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1027355	chr6:20207893-20261048	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1027220	chr6:20213667-20258103	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1028657	chr6:20215081-20258103	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:20214200-20221600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:20216600-20218200	Enhancers	Fetal Intestine Large	intestine
3	chr6:20216600-20218400	Enhancers	Left Ventricle	heart
4	chr6:20216600-20218400	Enhancers	K562	blood
5	chr6:20216800-20218200	Enhancers	Fetal Intestine Small	intestine
6	chr6:20216800-20218400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:20216800-20218400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:20217000-20218200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:20217000-20218200	Enhancers	Duodenum Mucosa	Duodenum
10	chr6:20217000-20218200	Enhancers	Stomach Mucosa	stomach
11	chr6:20217000-20218400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:20217000-20218400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:20217000-20218400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr6:20217000-20218400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:20217000-20218400	Enhancers	Rectal Smooth Muscle	rectum
16	chr6:20217000-20218400	Enhancers	NHEK	skin
17	chr6:20217200-20218400	Enhancers	Right Atrium	heart
18	chr6:20217400-20218600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:20217600-20218200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:20217600-20218200	Enhancers	Right Ventricle	heart
21	chr6:20217600-20218200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr6:20217600-20218200	Enhancers	HMEC	breast
23	chr6:20217600-20218400	Enhancers	Adipose Nuclei	Adipose
24	chr6:20217600-20218400	Enhancers	Brain Anterior Caudate	brain
25	chr6:20217600-20218400	Enhancers	Brain Hippocampus Middle	brain
26	chr6:20217600-20218400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:20217600-20218400	Enhancers	Lung	lung
28	chr6:20217600-20218400	Enhancers	Ovary	ovary
29	chr6:20217600-20218600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:20217600-20218600	Enhancers	Brain Substantia Nigra	brain
31	chr6:20217600-20218600	Flanking Active TSS	Fetal Heart	heart
32	chr6:20217600-20219200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:20217800-20218200	Enhancers	Pancreas	Pancrea
34	chr6:20217800-20218400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:20217800-20218400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:20217800-20218600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:20217800-20218600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:20218000-20218200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr6:20218000-20218200	Enhancers	Colon Smooth Muscle	Colon
40	chr6:20218000-20218400	Enhancers	Gastric	stomach
41	chr6:20218000-20218400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr6:20218000-20223200	Weak transcription	Primary monocytes fromperipheralblood	blood

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