Variant report

Variant	rs200232262
Chromosome Location	chr6:30004553-30004554
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30003872..30007108-chr6:30008649..30012245,4	K562	blood:
2	chr6:30002424..30006428-chr6:30027567..30030890,5	MCF-7	breast:
3	chr6:30002740..30005205-chr6:30029200..30030838,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066379	Chromatin interaction
ENSG00000204623	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031115	chr6:29934199-30058223	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv538172	chr6:29934199-30058223	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv884045	chr6:29997312-30015905	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv884046	chr6:29997312-30023868	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv884047	chr6:29998872-30007493	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1842358	chr6:30003764-30008996	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv819291	chr6:30003841-30009815	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29975200-30027800	Weak transcription	Aorta	Aorta
2	chr6:29975600-30027800	Weak transcription	Right Ventricle	heart
3	chr6:29975800-30027800	Weak transcription	Gastric	stomach
4	chr6:29976600-30023000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:29977200-30024600	Weak transcription	Brain Anterior Caudate	brain
6	chr6:29977200-30027600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:29977200-30027800	Weak transcription	Fetal Intestine Small	intestine
8	chr6:29979000-30027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:29979400-30024600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:29979600-30022800	Weak transcription	Ovary	ovary
11	chr6:29979800-30027800	Weak transcription	Pancreas	Pancrea
12	chr6:29980200-30012000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:29981200-30023000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:29981800-30010600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:29982800-30009800	Weak transcription	Psoas Muscle	Psoas
16	chr6:29982800-30022800	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:29983400-30012400	Weak transcription	NHEK	skin
18	chr6:29984600-30023400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:29985000-30024600	Weak transcription	Brain Angular Gyrus	brain
20	chr6:29985400-30008200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:29987800-30010600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:29987800-30024800	Weak transcription	Fetal Intestine Large	intestine
23	chr6:29988000-30010400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:29988200-30009800	Weak transcription	HepG2	liver
25	chr6:29988200-30022800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:29988200-30027800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:29988200-30027800	Weak transcription	Esophagus	oesophagus
28	chr6:29988400-30006200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:29988400-30021600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:29988400-30023400	Weak transcription	Adipose Nuclei	Adipose
31	chr6:29988400-30027800	Weak transcription	Thymus	Thymus
32	chr6:29988600-30009800	Weak transcription	Left Ventricle	heart
33	chr6:29988600-30022200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:29988600-30027400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:29988800-30022800	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:29989000-30009800	Weak transcription	GM12878-XiMat	blood
37	chr6:29989000-30023000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:29989400-30021400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr6:29996600-30012200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:29998000-30027600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr6:29998400-30012200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:29998400-30012200	Weak transcription	HMEC	breast
43	chr6:29999200-30027200	Weak transcription	Fetal Heart	heart
44	chr6:29999800-30012400	Weak transcription	Hela-S3	cervix
45	chr6:29999800-30022200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:30000000-30027400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr6:30001200-30025000	Weak transcription	Fetal Lung	lung
48	chr6:30001200-30027800	Weak transcription	Fetal Kidney	kidney
49	chr6:30001400-30012000	Weak transcription	HSMM	muscle
50	chr6:30001600-30022600	Weak transcription	Brain Substantia Nigra	brain

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