Variant report

Variant	rs12194843
Chromosome Location	chr6:20212469-20212470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:20208250..20214334-chr6:20400294..20406447,14	K562	blood:
2	chr6:17393765..17396443-chr6:20210532..20213161,2	MCF-7	breast:
3	chr6:20212240..20212963-chr7:5569737..5570296,2	Hela-S3	cervix:
4	chr6:20211909..20212822-chr6:20402314..20402881,2	Hela-S3	cervix:
5	chr6:20208632..20214725-chr6:20400593..20405219,15	K562	blood:
6	chr6:20208057..20215931-chr6:20401288..20405953,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075624	Chromatin interaction
ENSG00000112242	Chromatin interaction
ENSG00000112186	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12204103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35542031	1.00[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	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:20210200-20213200	Active TSS	Duodenum Mucosa	Duodenum
2	chr6:20210600-20213600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:20210600-20213800	Active TSS	Ovary	ovary
4	chr6:20210800-20213000	Active TSS	Fetal Intestine Small	intestine
5	chr6:20211000-20212600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:20211000-20213200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:20211000-20213200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:20211000-20213200	Active TSS	Fetal Intestine Large	intestine
9	chr6:20211000-20213400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr6:20211000-20213400	Active TSS	GM12878-XiMat	blood
11	chr6:20211000-20213600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr6:20211000-20213600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr6:20211000-20213600	Active TSS	Right Atrium	heart
14	chr6:20211200-20212600	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr6:20211200-20213200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:20211200-20213200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:20211200-20213400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:20211200-20213400	Active TSS	Brain Substantia Nigra	brain
19	chr6:20211200-20213400	Active TSS	Esophagus	oesophagus
20	chr6:20211200-20213400	Active TSS	Gastric	stomach
21	chr6:20211200-20213400	Active TSS	Small Intestine	intestine
22	chr6:20211200-20213600	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr6:20211400-20213200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:20211400-20213200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:20211400-20213200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:20211400-20213200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:20211400-20213200	Active TSS	Brain Anterior Caudate	brain
28	chr6:20211400-20213200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr6:20211400-20213200	Active TSS	Stomach Mucosa	stomach
30	chr6:20211400-20213200	Active TSS	HMEC	breast
31	chr6:20211400-20213200	Active TSS	NHEK	skin
32	chr6:20211400-20213200	Active TSS	NHLF	lung
33	chr6:20211400-20213400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:20211400-20213400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:20211400-20213400	Active TSS	Aorta	Aorta
36	chr6:20211400-20213400	Active TSS	Brain Hippocampus Middle	brain
37	chr6:20211400-20213400	Active TSS	Pancreas	Pancrea
38	chr6:20211400-20213600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:20211400-20213600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr6:20211600-20212600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr6:20211600-20213000	Active TSS	Muscle Satellite Cultured Cells	--
42	chr6:20211600-20213200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:20211600-20213200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr6:20211600-20213200	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr6:20211600-20213200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:20211600-20213200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr6:20211600-20213200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:20211600-20213200	Active TSS	Colonic Mucosa	Colon
49	chr6:20211600-20213200	Active TSS	Fetal Kidney	kidney
50	chr6:20211600-20213200	Active TSS	Fetal Lung	lung

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