Variant report

Variant	rs549357416
Chromosome Location	chr6:114180171-114180172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:113915756..113916633-chr6:114180073..114180718,2	MCF-7	breast:
2	chr6:113962572..113972353-chr6:114176344..114182135,15	MCF-7	breast:
3	chr6:113951154..113956306-chr6:114178159..114180970,5	MCF-7	breast:
4	chr6:113627507..113628019-chr6:114179828..114180698,2	K562	blood:
5	chr17:59488001..59490048-chr6:114178247..114180860,2	MCF-7	breast:
6	chr6:114143592..114145943-chr6:114178562..114180507,2	MCF-7	breast:
7	chr6:113951972..113954125-chr6:114177118..114180293,3	MCF-7	breast:
8	chr6:114178671..114180639-chr6:114284210..114286994,2	MCF-7	breast:
9	chr6:114178559..114181468-chr6:114186800..114188591,2	K562	blood:
10	chr6:114010739..114011539-chr6:114180117..114180628,2	MCF-7	breast:
11	chr6:114179382..114181466-chr6:114226891..114229002,2	MCF-7	breast:
12	chr6:113101445..113102356-chr6:114179834..114180665,3	K562	blood:
13	chr6:114178176..114180807-chr6:114192347..114194542,2	MCF-7	breast:
14	chr6:113200805..113201509-chr6:114179455..114180713,3	K562	blood:
15	chr6:113988623..113991575-chr6:114178978..114181550,2	MCF-7	breast:
16	chr6:113970166..113973032-chr6:114177740..114182018,4	MCF-7	breast:
17	chr6:114179689..114181949-chr6:114200936..114203299,2	K562	blood:
18	chr6:113443465..113445124-chr6:114178799..114180664,2	MCF-7	breast:
19	chr20:53463274..53464883-chr6:114178881..114181471,2	MCF-7	breast:
20	chr6:114177680..114181410-chr6:114290377..114292499,3	MCF-7	breast:
21	chr6:114010567..114011130-chr6:114179735..114180297,2	MCF-7	breast:
22	chr6:113109659..113111203-chr6:114178875..114181811,2	MCF-7	breast:
23	chr6:113732055..113735601-chr6:114178607..114183451,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227502	Chromatin interaction
ENSG00000228624	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000196591	Chromatin interaction
ENSG00000230943	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv3444623	chr6:114177809-114182607	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	n/a
5	nsv482098	chr6:114178527-114184652	Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	n/a
6	esv3338875	chr6:114179784-114182632	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114175400-114180400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:114175400-114182200	Active TSS	A549	lung
3	chr6:114175600-114181400	Active TSS	NHLF	lung
4	chr6:114175600-114181800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr6:114175600-114181800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr6:114175600-114181800	Active TSS	Fetal Lung	lung
7	chr6:114175600-114181800	Active TSS	NHDF-Ad	bronchial
8	chr6:114175600-114182000	Active TSS	Brain Anterior Caudate	brain
9	chr6:114175600-114182000	Active TSS	Brain Hippocampus Middle	brain
10	chr6:114175600-114182200	Active TSS	Brain Substantia Nigra	brain
11	chr6:114175600-114183000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:114175600-114183600	Active TSS	Right Atrium	heart
13	chr6:114175600-114184000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr6:114175800-114180400	Active TSS	Colonic Mucosa	Colon
15	chr6:114175800-114180400	Active TSS	Right Ventricle	heart
16	chr6:114175800-114180400	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr6:114175800-114180600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:114175800-114180800	Active TSS	Fetal Kidney	kidney
19	chr6:114175800-114181800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:114175800-114181800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:114175800-114181800	Active TSS	Brain Angular Gyrus	brain
22	chr6:114175800-114181800	Active TSS	Esophagus	oesophagus
23	chr6:114175800-114181800	Active TSS	Gastric	stomach
24	chr6:114175800-114181800	Active TSS	Pancreas	Pancrea
25	chr6:114175800-114181800	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr6:114175800-114182000	Active TSS	Aorta	Aorta
27	chr6:114175800-114182000	Active TSS	Fetal Intestine Small	intestine
28	chr6:114175800-114182200	Active TSS	Brain Cingulate Gyrus	brain
29	chr6:114175800-114182200	Active TSS	Ovary	ovary
30	chr6:114175800-114182600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:114175800-114182800	Active TSS	Psoas Muscle	Psoas
32	chr6:114176000-114180400	Active TSS	Left Ventricle	heart
33	chr6:114176000-114181000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:114176000-114182400	Active TSS	Fetal Intestine Large	intestine
35	chr6:114176000-114183200	Active TSS	Colon Smooth Muscle	Colon
36	chr6:114176200-114180600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:114176200-114181800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:114176200-114182200	Active TSS	Fetal Muscle Trunk	muscle
39	chr6:114176400-114180200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:114177000-114182200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:114177200-114180400	Active TSS	Placenta	Placenta
42	chr6:114177200-114180400	Active TSS	Fetal Stomach	stomach
43	chr6:114177200-114180600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
44	chr6:114177200-114180800	ZNF genes & repeats	Fetal Brain Male	brain
45	chr6:114177200-114181200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr6:114177400-114180400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:114177400-114180400	Active TSS	Duodenum Mucosa	Duodenum
48	chr6:114177400-114180400	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr6:114177400-114180800	Flanking Active TSS	Liver	Liver
50	chr6:114177400-114181000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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