Variant report

Variant	rs548717045
Chromosome Location	chr6:114181309-114181310
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:113962572..113972353-chr6:114176344..114182135,15	MCF-7	breast:
2	chr6:114178559..114181468-chr6:114186800..114188591,2	K562	blood:
3	chr6:114179382..114181466-chr6:114226891..114229002,2	MCF-7	breast:
4	chr6:113988623..113991575-chr6:114178978..114181550,2	MCF-7	breast:
5	chr6:113970166..113973032-chr6:114177740..114182018,4	MCF-7	breast:
6	chr6:114179689..114181949-chr6:114200936..114203299,2	K562	blood:
7	chr20:53463274..53464883-chr6:114178881..114181471,2	MCF-7	breast:
8	chr6:114177680..114181410-chr6:114290377..114292499,3	MCF-7	breast:
9	chr6:113109659..113111203-chr6:114178875..114181811,2	MCF-7	breast:
10	chr6:113732055..113735601-chr6:114178607..114183451,4	MCF-7	breast:
11	chr6:114180592..114182407-chr6:114183261..114185207,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196591	Chromatin interaction
ENSG00000228624	Chromatin interaction
ENSG00000230943	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	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
7	esv3337132	chr6:114180309-114182607	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114175400-114182200	Active TSS	A549	lung
2	chr6:114175600-114181400	Active TSS	NHLF	lung
3	chr6:114175600-114181800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr6:114175600-114181800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr6:114175600-114181800	Active TSS	Fetal Lung	lung
6	chr6:114175600-114181800	Active TSS	NHDF-Ad	bronchial
7	chr6:114175600-114182000	Active TSS	Brain Anterior Caudate	brain
8	chr6:114175600-114182000	Active TSS	Brain Hippocampus Middle	brain
9	chr6:114175600-114182200	Active TSS	Brain Substantia Nigra	brain
10	chr6:114175600-114183000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr6:114175600-114183600	Active TSS	Right Atrium	heart
12	chr6:114175600-114184000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr6:114175800-114181800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:114175800-114181800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:114175800-114181800	Active TSS	Brain Angular Gyrus	brain
16	chr6:114175800-114181800	Active TSS	Esophagus	oesophagus
17	chr6:114175800-114181800	Active TSS	Gastric	stomach
18	chr6:114175800-114181800	Active TSS	Pancreas	Pancrea
19	chr6:114175800-114181800	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr6:114175800-114182000	Active TSS	Aorta	Aorta
21	chr6:114175800-114182000	Active TSS	Fetal Intestine Small	intestine
22	chr6:114175800-114182200	Active TSS	Brain Cingulate Gyrus	brain
23	chr6:114175800-114182200	Active TSS	Ovary	ovary
24	chr6:114175800-114182600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:114175800-114182800	Active TSS	Psoas Muscle	Psoas
26	chr6:114176000-114182400	Active TSS	Fetal Intestine Large	intestine
27	chr6:114176000-114183200	Active TSS	Colon Smooth Muscle	Colon
28	chr6:114176200-114181800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:114176200-114182200	Active TSS	Fetal Muscle Trunk	muscle
30	chr6:114177000-114182200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:114177400-114182200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:114177600-114181600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:114177600-114182000	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr6:114177600-114182200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:114177600-114183000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:114177800-114181400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr6:114177800-114181600	Active TSS	NH-A	brain
38	chr6:114177800-114181800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:114177800-114181800	Active TSS	GM12878-XiMat	blood
40	chr6:114177800-114181800	Active TSS	Osteobl	bone
41	chr6:114177800-114182400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:114177800-114182400	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr6:114178000-114181800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr6:114178000-114182000	Active TSS	HSMM	muscle
45	chr6:114178000-114182200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr6:114178000-114182200	Active TSS	HSMMtube	muscle
47	chr6:114178000-114182400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:114178000-114183000	Active TSS	Fetal Muscle Leg	muscle
49	chr6:114178200-114181400	Active TSS	HUVEC	blood vessel
50	chr6:114178200-114181600	Active TSS	HUES64 Cell Line	embryonic stem cell

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